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Artykuły w czasopismach na temat „Mosaic genetic anomalies”

Autor: Grafiati

Data publikacji: 14 grudnia 2024

Data aktualizacji: 31 lipca 2025

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1

Xing, Huan-xia, Peng-bin Li, Li-min Cui, Jian-ye Jiang, Ning-ning Hu, and Xiao-bin Zhang. "Whole Exome Sequencing Facilitated the Identification of a Mosaic Small Supernumerary Marker Chromosome (sSMC)." BioMed Research International 2021 (July 2, 2021): 1–8. http://dx.doi.org/10.1155/2021/6258527.

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Small supernumerary marker chromosomes (sSMCs) are a group of rare chromosomal anomalies, which pose challenges in the clinical practice of prenatal diagnosis and genetic counseling. This study enrolled an extended family with an underage male patient displaying infantile seizures, intellectual disability, and retarded speech and psychomotor function. A series of multiplatform genetic detections was conducted to explore the diagnostic variation. Whole exome sequencing (WES) and chromosomal microarray analysis (CMA) indicated a mosaic sSMC derived from the pericentromeric region of chromosome 8

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Kristesashvili, Jenaro, and Nino Sigua. "Chromosomal Anomalies in Couples with Recurrent Pregnancy Loss." Medical Times 1, no. 1 (2023): 36–40. https://doi.org/10.71419/mtggrc.2023.6.

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This study explores the landscape of chromosomal anomalies in couples with recurrent pregnancy loss (RPL) who have not previously delivered abnormal fetuses. From 2014 to 2021, we analyzed 122 couples who had experienced more than two first-trimester miscarriages. After excluding common causes of RPL, we conducted a cytogenetic analysis using G-banding. The results revealed chromosomal anomalies in 8.2% of cases, including balanced reciprocal translocations in 4 men and two women, Robertsonian translocations in 2 men, and subfertility in 3 men. Additionally, one woman had a pericentric inversi

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Vinkšel, M., M. Volk, B. Peterlin, and L. Lovrecic. "A systematic clinical review of prenatally diagnosed tetrasomy 9p." Balkan Journal of Medical Genetics 22, no. 1 (2019): 11–20. http://dx.doi.org/10.2478/bjmg-2019-0012.

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AbstractTetrasomy 9p was first described in 1973 and approximately 68 cases with a variable phenotype have been reported to date with 22 of them being detected prenatally. The objective of this study was to review prenatally-reported cases of tetrasomy 9p thus far and to identify ultrasound phenotypes that may be suggestive of this specific syndrome. A PubMed database search was done in February 2018 without any restriction of publication date orjournals, with the use of the following keywords: tetrasomy 9p, tetrasomy 9p prenatal, mosaic tetrasomy 9p, mosaic tetrasomy 9p prenatal, isochromosom

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Hong, You Mi, Soo Hyun Kim, Hee Jin Park, et al. "Prenatal Ultrasound Findings and Chromosomal Outcomes of Pregnancies with Mosaic Embryo Transfer." Diagnostics 14, no. 24 (2024): 2795. https://doi.org/10.3390/diagnostics14242795.

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Background: To investigate prenatal ultrasound findings and the chromosomal outcomes of mosaic embryo transfer. Methods: This retrospective study was conducted on pregnant women who underwent mosaic embryo transfer following blastocyst-stage preimplantation genetic testing for aneuploidy (PGT-A) at CHA Gangnam Medical Center from January 2021 to July 2024. Trophectoderm biopsy specimens were collected using standard protocols, and next-generation sequencing profiles were defined as mosaics when displaying copy number counts in the 20–80% range. The results of the PGT-A, the amniocentesis resul

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Milicevic, Srboljub, Jasmina Tadic, Stasa Krasic, and Stevan Repac. "Autopsy findings in a fetus with monosomy 20 mosaicism." Srpski arhiv za celokupno lekarstvo, no. 00 (2024): 17. http://dx.doi.org/10.2298/sarh231112017m.

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Introduction. Mosaic monosomy 20 is a rare chromosomal aberration, without characteristic clinical features. We present a case of a fetus with monosomy 20 mosaicism revealed after prenatal ultrasound detection of anhydramnios and multiple anomalies. Case outline. The second pregnancy of a 33 years old woman, was terminated at 23rd gestational week, because of the multiple fetal anomalies and anhydramnios, detected by ultrasound. The autopsy of a female fetus revealed multiple congenital anomalies: ventriculomegaly, bilateral choroid plexus cysts, perivascular gliosis in periventricular region

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Vorsanova, S. G., I. V. Solovyev, O. S. Kurinnaya, et al. "The Y chromosome disomy syndrome (47, XYY) in children with mental retardation, deviations of sex development and different genome anomalies: molecular cytogenetic studies." Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics) 65, no. 2 (2020): 40–48. http://dx.doi.org/10.21508/1027-4065-2020-65-2-40-48.

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The article present the results of retrospectively analyzed children (4424 boys) with mental and psychomotor retardation, congenital malformations and/or developmental micro anomalies. 23 children had various forms of Y chromosome dysomy syndrome. The frequency of this syndrome in the studied cohort was 0.52%; and in this connection the authors discussed the role of Y-chromosome in the origin of mental retardation. Besides, the chromosome instability in sex and somatic cells is supposed to be a common mechanism of different chromosomal anomalies. The authors discussed the possibility of cytoge

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Thu-Ta, Flora, Dalvir Singh Bajwa, Suzanne Leech, Anna Dubois, and Brian Wilson. "PA33 Mosaic KRAS mutation associated with epidermal naevus and somatic limb overgrowth." British Journal of Dermatology 191, Supplement_1 (2024): i137. http://dx.doi.org/10.1093/bjd/ljae090.288.

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Abstract Mosaic KRAS variants are recognized to cause a range of features including somatic overgrowth, lymphatic and vascular malformations and other anomalies. We present a child with a mosaic variant in this gene and discuss the phenotype of this condition. A 2-year-old boy was noted at birth to have an extensive keratinocytic epidermal naevus and swelling of the left lower limb. The child was born after an uncomplicated pregnancy to unrelated parents. No anomalies had been detected prenatally. The naevus was large, affecting the left side of the body with a central demarcation down the mid

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Kart, Kenan, and Erol Toy. "General Anesthesia Management of a Case with Trisomy 8 Mosaic Syndrome: A Rare Chromosomal Anomaly and Anesthesia Difficulties." Journal of Anesthesiology and Reanimation Specialists' Society 33, no. 1 (2025): 39–41. https://doi.org/10.54875/jarss.2025.48030.

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Trisomy 8 Mosaic Syndrome (T8MS) is a rare genetic disease. Patients with congenital anomalies carry some risks in terms of anesthesia. Although the anesthesia difficulties of patients with congenital anomalies are well described in the literature, studies or case reports presenting patients with trisomy 8 are quite limited. The case presented here is a 6-year-old boy weighing 22 kg. Since the patient had some multiple abnormalities such as retromicrognathia, high palate and short neck, the operating table was prepared in accordance with the hospital’s Difficult Airway Protocol on the day of s

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Leroij, Olivier, Lennart Van der Veeken, Bettina Blaumeiser, and Katrien Janssens. "Pushing the Limits of Prenatal Ultrasound: A Case of Dorsal Dermal Sinus Associated with an Overt Arnold–Chiari Malformation and a 3q Duplication." Reproductive Medicine 2, no. 3 (2021): 118–24. http://dx.doi.org/10.3390/reprodmed2030012.

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We present a case of a fetus with cranial abnormalities typical of open spina bifida but with an intact spine shown on both ultrasound and fetal MRI. Expert ultrasound examination revealed a very small tract between the spine and the skin, and a postmortem examination confirmed the diagnosis of a dorsal dermal sinus. Genetic analysis found a mosaic 3q23q27 duplication in the form of a marker chromosome. This case emphasizes that meticulous prenatal ultrasound examination has the potential to diagnose even closed subtypes of neural tube defects. Furthermore, with cerebral anomalies suggesting a

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Tidrenczel, Zsolt, Erika P. Tardy, Edina Sarkadi, Judit Simon, Artúr Beke, and János Demeter. "Praenatalisan diagnosztizált Pallister–Killian-szindróma esete." Orvosi Hetilap 159, no. 21 (2018): 847–52. http://dx.doi.org/10.1556/650.2018.31015.

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Abstract: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder that is caused by the mosaic presence of a supernumerary marker chromosome, isochromosome 12p. The syndrome is a polydysmorphic condition characterized by mental retardation, craniofacial dysmorphism, hypotonia, seizures, epilepsy and certain organic malformations (diaphragmatic hernia, congenital heart disease). Prenatal diagnosis is challenging due to the mosaic tissue-specific distribution of the chromosomal disorder and highly variable phenotype. Prenatal diagnosis is often accidental, however, appropriate labo

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Stephens, Carol M., Andreea M. Pavel, Sean R. Mathieson, et al. "Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)." HRB Open Research 5 (February 18, 2022): 14. http://dx.doi.org/10.12688/hrbopenres.13493.1.

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Pallister Killian Syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. The syndrome is characterised by typical craniofacial dysmorphism, congenital anomalies and intellectual disability. Epilepsy is a known complication, with onset usually occurring in early childhood and characterised most commonly by spasms and myoclonic seizures. To the best of our knowledge, there have been no cases describing the early neonatal EEG in PKS and electrographic seizures, to date. Here, we report two cases of PKS presenting in the neonatal period with disti

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Eid, Maha M., Ola M. Eid, Sawsan Abdel-Hadi, et al. "Clinical Variability of Pallister–Killian Syndrome in Two Egyptian Patients." Journal of Pediatric Genetics 09, no. 03 (2019): 207–10. http://dx.doi.org/10.1055/s-0039-3400489.

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AbstractPallister–Killian syndrome (PKS) is a rare sporadic genetic disorder caused by a mosaic tetrasomy of chromosome 12p, which mainly manifests with craniofacial dysmorphism, intellectual disability (ID), auditory disturbance, epilepsy, and a variety of congenital malformations. The diagnosis of PKS can be complicated due to the phenotypic variation, and an overlap with other syndromes makes the molecular cytogenetic test necessary for a correct diagnosis. We identified two unrelated patients with typical facial features of PKS, including bitemporal alopecia, hypertelorism, and abnormal ea

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Schneeweiss, Michelle Robyn, Breanne Dale, and Resham Ejaz. "Diagnosis and clinical presentation of two individuals with a rareTCF20pathogenic variant." BMJ Case Reports 15, no. 12 (2022): e248995. http://dx.doi.org/10.1136/bcr-2022-248995.

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TCF20-associated neurodevelopmental disorder (TAND) is a rare and phenotypically variable genetic condition. Common features include intellectual disability, neurobehavioural concerns, postnatal tall stature and hypotonia.Two unrelated early adolescent males were referred to genetics for assessment of developmental delay. The first male of Caucasian descent had a history of autism spectrum disorder (ASD), mitral valve prolapse and subtle craniofacial dysmorphisms. The second male of Somali descent had a history of intellectual disability, thick corpus callosum and ASD. Whole-exome sequencing r

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14

Brăila, Anca Daniela, Constantin Marian Damian, Cristina-Crenguţa Albu, et al. "Prenatal Diagnosis of Cleft Lip and Palate: A Retrospective Study." Journal of Clinical Medicine 13, no. 16 (2024): 4804. http://dx.doi.org/10.3390/jcm13164804.

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Cleft lip and/or palate are prevalent congenital anomalies. Early and accurate diagnosis allows proper case management. The Objective: This retrospective cohort study aimed to investigate the association between cleft lip and palate and other congenital anomalies. Methods: This study analyzed 17 pregnancies prenatally diagnosed with cleft lip and palate. The investigations consisted of ultrasound examination, fetal karyotyping through amniocentesis, and family tree analysis. In the presence of an abnormal fetal karyotype, the parental karyotype was also indicated. Results: Of the 17 cases iden

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Juric-Sekhar, Gordana, and Robert F. Hevner. "Malformations of Cerebral Cortex Development: Molecules and Mechanisms." Annual Review of Pathology: Mechanisms of Disease 14, no. 1 (2019): 293–318. http://dx.doi.org/10.1146/annurev-pathmechdis-012418-012927.

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Malformations of cortical development encompass heterogeneous groups of structural brain anomalies associated with complex neurodevelopmental disorders and diverse genetic and nongenetic etiologies. Recent progress in understanding the genetic basis of brain malformations has been driven by extraordinary advances in DNA sequencing technologies. For example, somatic mosaic mutations that activate mammalian target of rapamycin signaling in cortical progenitor cells during development are now recognized as the cause of hemimegalencephaly and some types of focal cortical dysplasia. In addition, re

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Dr., Cristina-Crenguta Albu, Dinu-Florin Albu Dr., and Stefan-Dimitrie Albu Dr. "Trisomy 13 mosaicism syndrome with atypical plurimalformative phenotype." International Journal of Medical Research and Review 7, no. 6 (2019): 574–78. https://doi.org/10.17511/ijmrr.2019.i06.19.

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Introduction: Orofacial clefts are important congenital malformations of the lip, palate, or both caused by complex genetic and environmental factors. Aims and Objectives: The present study aims to highlight the phenotypic heterogeneity of trisomy 13 mosaicism. Material and Methods: We present one clinical case of a 30-year-old, Caucasian woman who is pregnant for the first time. Techniques of work study: anamnesis, clinical examination, serological tests for Toxoplasmosis, Rubeola, CMV and Herpes, ultrasound examination at 20 weeks gestation with General Electric Echographe Voluson E10 BT18,

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Laurie, Cathy C., Cecelia A. Laurie, Brooke Fridley, et al. "Clonal Chromosomal Anomalies Similar to CLL and Other Hematologic Malignancies Can Be Found in “Normal” Individuals." Blood 120, no. 21 (2012): 873. http://dx.doi.org/10.1182/blood.v120.21.873.873.

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Abstract Abstract 873 Introduction: Clonal chromosomal anomalies have been well-characterized in the blood cells of patients with Chronic Lymphocytic Leukemia (CLL) and other hematological malignancies. However, the frequencies and types of chromosomal anomalies found in “normal” people (i.e. no history of hematological cancer) are much less well known. Here we compare chromosomal anomalies in untreated CLL patients with those found in a large sample of people (n>50,000) recruited for genome-wide association studies in the Gene Environment Association Studies (GENEVA) consortium. This compa

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Bacal, Vanessa, Angela Li, Heather Shapiro, et al. "A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy." PLOS One 20, no. 5 (2025): e0321859. https://doi.org/10.1371/journal.pone.0321859.

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Objective Aneuploidy accounts for many pregnancy failures and congenital anomalies. Preimplantation genetic testing for aneuploidy (PGT-A) is a screening test applied to embryos created from in vitro fertilization to diminish the chance of an aneuploid conception. The rate of misdiagnosis for both false aneuploidy (false positive) and false euploidy (false negative) test results is unknown. The objective of this study was to determine the rate of misclassification of both aneuploidy and euploidy after PGT-A. Data sources We conducted a systematic review and meta-analysis. We searched Medline,

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Dsouza, Nikita R., Catherine E. Cottrell, Olivia M. T. Davies, et al. "Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes." Life 14, no. 3 (2024): 297. http://dx.doi.org/10.3390/life14030297.

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The PI3K enzymes modify phospholipids to regulate cell growth and differentiation. Somatic variants in PI3K are recurrent in cancer and drive a proliferative phenotype. Somatic mosaicism of PIK3R1 and PIK3CA are associated with vascular anomalies and overgrowth syndromes. Germline PIK3R1 variants are associated with varying phenotypes, including immunodeficiency or facial dysmorphism with growth delay, lipoatrophy, and insulin resistance associated with SHORT syndrome. There has been limited study of the molecular mechanism to unify our understanding of how variants in PIK3R1 drive both underg

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Mussa, Alessandro, Diana Carli, Simona Cardaropoli, Giovanni Battista Ferrero, and Nicoletta Resta. "Lateralized and Segmental Overgrowth in Children." Cancers 13, no. 24 (2021): 6166. http://dx.doi.org/10.3390/cancers13246166.

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Congenital disorders of lateralized or segmental overgrowth (LO) are heterogeneous conditions with increased tissue growth in a body region. LO can affect every region, be localized or extensive, involve one or several embryonic tissues, showing variable severity, from mild forms with minor body asymmetry to severe ones with progressive tissue growth and related relevant complications. Recently, next-generation sequencing approaches have increased the knowledge on the molecular defects in LO, allowing classifying them based on the deranged cellular signaling pathway. LO is caused by either gen

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Ramwani, Miteshkumar, Claire O’Neill, Lea Solman, Alex Barnacle, Mary Glover, and Satyamaanasa Polubothu. "PA09 Clinical characterization of a cohort of KRAS-associated low-flow vascular anomalies." British Journal of Dermatology 191, Supplement_1 (2024): i126—i127. http://dx.doi.org/10.1093/bjd/ljae090.264.

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Abstract Low-flow vascular malformations with associated overgrowth are most often caused by somatic activating variants in the gene PIK3CA. Discovering the genetic basis in this cohort has transformed treatment prospects and enabled targeted medical therapy with inhibitors of the phosphoinositide 3-kinase–AKT–mammalian target of rapamycin pathway. However, a small number of patients are negative for PIK3CA mutations, and identification of such individuals is important to enable stratification for appropriate targeted medical therapies. We report here three patients with low-flow vascular anom

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Kristesashvili, Jenaro, Elene Asanidze, and A. Jibladze. "Premature Ovarian Insufficiency Determined by X Chromosome Anomalies." Medical Times 2, no. 1 (2024): 7–12. https://doi.org/10.71419/mtggrc.2024.11.

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Background: Premature ovarian insufficiency (POI) is a condition defined by loss of ovarian activity before the age of 40 years, accompanied by menopausal symptoms. It is marked by amenorrhea or oligomenorrhea, absence of ovulation, elevated gonadotropins, and low estradiol levels. POI can be classified into spontaneous non-iatrogenic and iatrogenic forms. The prevalence of non-iatrogenic POI in the population ranges from 1% to 3.5%. The X chromosome’s Numerical and structural abnormalities are key etiological factors. Objective: To determine the clinical peculiarities and types of POI caused

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Lara-Corrales, Irene, Mitra Moazzami, Maria Teresa García-Romero, et al. "Mosaic Neurofibromatosis Type 1 in Children: A Single-Institution Experience." Journal of Cutaneous Medicine and Surgery 21, no. 5 (2017): 379–82. http://dx.doi.org/10.1177/1203475417708163.

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Background: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. Objectives: Our study’s objectives were to describe the clinical characteristics of children with MNF. Methods: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012. Data were abstracted from health records and anal

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Strano, Serena, Agata Polizzi, Martino Ruggieri, et al. "Phacomatosis Pigmentokeratotica." Journal of Pediatric Neurology 16, no. 05 (2018): 313–18. http://dx.doi.org/10.1055/s-0038-1667132.

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AbstractIn the group of the epidermal nevus syndromes, Happle defined in 1996 a separate entity characterized by the presence of an organoid epidermal nevus, sometimes showing sebaceous differentiation, and a speckled lentiginous nevus of the papular type, occasionally associated with extracutaneous anomalies including neurological, ophthalmological, and skeletal abnormalities. In particular, the syndrome is associated with mental retardation, epilepsy, deafness, hemiatrophy, dysesthesia, and hyperhidrosis, strabismus, lipodermoid of conjunctiva, coloboma and ptosis, and kyphosis, scoliosis, l

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Khan, Atif Ahmad, Fazal Mabood, Muhammad Jamil Awan, Zarak Khan, Qaisar Ali, and Sunaina Riaz. "Conventional Cytogenetic Analysis of Females with Primary Amenorrhea." BMC Journal of Medical Sciences 5, no. 1 (2024): 48–51. https://doi.org/10.70905/bmcj.05.01.0267.

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Abstract Background: Primary amenorrhea, characterized by the absence of menstrual periods in females of reproductive age, presents a multifaceted challenge in clinical practice. Cytogenetic analysis stands as a foundational pillar in unraveling the genetic landscape governing primary amenorrhea. Objective: The study was designed to determine the chromosomal abnormalities of females with primary amenorrhea. Materials and Methods: In the current cross-sectional study, two hundred patients with a history of primary amenorrhea were processed by the standard KAROTYPING technique. The study was car

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An, Na, Yang Yu, Qi Xi, et al. "Molecular Characterization of Mosaicism for a Small Supernumerary Marker Chromosome Derived from Chromosome Y in an Infertile Male with Apparently Normal Phenotype: A Case Report and Literature Review." BioMed Research International 2019 (November 19, 2019): 1–8. http://dx.doi.org/10.1155/2019/9398275.

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Small supernumerary marker chromosomes (sSMCs), equal in size or smaller than chromosome 20 of the same metaphase, can hardly be identified through traditional banding technique. They are usually associated with intelligent disability, growth retardation, and infertility, but the genotype-phenotype correlations are still complicated for their complex origins and constitutions. Herein, we identified a 26-year-old Chinese infertile male who carried a mosaic sSMC and was diagnosed as severe oligospermia. The G-banding analysis initially described his karyotype as mos 47, XY, +mar[32]/46, XY[18].

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Aynaci, Sabri, Sinem Kocagil, Esfun Tosumoglu, et al. "Chromosomal abnormalities in couples with recurrent pregnancy loss: a 16-year cross-sectional study of 4030 cases from Turkey." Annals of Saudi Medicine 45, no. 3 (2025): 154–64. https://doi.org/10.5144/0256-4947.2025.154.

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BACKGROUND: Chromosomal abnormalities are a significant cause of miscarriages. Carriers of balanced chromosome rearrangement are often at risk of recurrent pregnancy loss (RPL), as they are more likely to produce gametes with unbalanced chromosome rearrangements. OBJECTIVE: This study evaluated the chromosomal abnormalities detected in couples with history of primary recurrent pregnancy loss. DESIGN: Retrospective, cross-sectional study SETTING: Single center, tertiary healthcare center in Turkey PATIENTS AND METHODS: This study reviewed conventional cytogenetic/molecular cytogenetic analysis

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Eren Keskin, Seda, Buket Doğruoğlu, Zeynep İlkay, et al. "Cytogenetic evaluation of 661 prenatal samples." Cukurova Medical Journal 49, no. 2 (2024): 248–59. http://dx.doi.org/10.17826/cumj.1380467.

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Purpose: Fetal karyotyping is commonly used to detect chromosomal abnormalities in high-risk pregnancies. Our study is intended to evaluate the results of fetal karyotyping performed in our laboratory for six years and to determine the frequency of chromosomal abnormalities, thus revealing their clinical significance. Materials and Methods: The cytogenetic results of 661 prenatal samples with an indication for invasive prenatal procedures (amniocentesis, cordocentesis) who had a chromosome analysis and FISH testing between February 2013 and March 2019 were analyzed in our study. Results: A tot

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Khincha, Payal, Lisa Mirabello, Steven R. Ellis, et al. "Novel and Known Ribosomal Causes of Diamond-Blackfan Anemia Identified through Comprehensive Genomic Characterization." Blood 128, no. 22 (2016): 1495. http://dx.doi.org/10.1182/blood.v128.22.1495.1495.

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Abstract Introduction: Diamond-Blackfan anemia (DBA) is a rare inherited bone marrow failure syndrome (IBMFS) characterized by erythroid hypoplasia. It is associated with a number of congenital anomalies and a high risk of developing specific cancers. DBA is caused by germline mutations or deletions in genes affecting ribosomal biogenesis and function, with autosomal dominant or X-linked recessive patterns of inheritance. The most commonly mutated gene is RPS19, seen in approximately 25% of patients. About 45% of DBA families have no known disease-causing pathogenic variant. Methods: Affected

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Gou, Lingshan, Yuan Fang, Na Wang, et al. "Clinical management of pregnancies with positive screening results for rare autosomal aneuploidies at a single center." Journal of International Medical Research 48, no. 11 (2020): 030006052096687. http://dx.doi.org/10.1177/0300060520966877.

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Objective To review our experiences on clinical management of pregnancies with positive noninvasive prenatal testing (NIPT) results for rare autosomal aneuploidies (RAAs) at a single center. Methods We performed a retrospective study and reviewed data from 18,016 pregnancies undergoing NIPT at a single center in China from March 2017 to February 2020. Depending on the patient’s choice, women with positive screening results for RAAs underwent chromosomal microarray analysis for invasive prenatal diagnosis. Results Thirty-three positive cases for RAAs were identified, with a positive screening r

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Kryzhanovska, M. A., O. Yu Maiorova та N. Ia Holub. "АНАЛІЗ ДИНАМІКИ НАРОДЖЕННЯ ДІТЕЙ З АУТОСОМНИМИ ТРИСОМІЯМИ ПО ХМЕЛЬНИЦЬКІЙ ОБЛАСТІ". Scientific Issue Ternopil Volodymyr Hnatiuk National Pedagogical University. Series: Biology 83, № 1-2 (2023): 37–43. http://dx.doi.org/10.25128/2078-2357.23.1-2.6.

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In the face of challenging modern demographic conditions, the imperative of preserving human life is becoming increasingly urgent. Environmental pollution, a deteriorating ecological landscape, imbalanced nutrition, unhealthy lifestyles, the accumulation of hereditary defects, and a rising genetic burden collectively exert adverse effects on Ukraine's gene pool. This unfortunate scenario contributes to the increased rate of early child mortality and the birth of children with disabilities [7]. The objective of this study was to analyze the trends in child births with Down, Edwards, and P

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Khan, Mansura, Mohammad Moniruzzaman, Zarina Akhter, Md Azmal Hossain, and Ashesh Kumar Chowdhury. "An Analysis of Cytogenetic and Clinical Phenotype of Klinefelter Syndrome Over 17 Years." BIRDEM Medical Journal 8, no. 2 (2018): 126–31. http://dx.doi.org/10.3329/birdem.v8i2.36642.

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Background: Clinical phenotype in Klinefelter syndrome (KS) shows utmost contrariety according to the genetic presentation. The karyotype 47, XXY is one of the commonest types of sex chromosomal abnormality in males presenting with infertility, hypogonadism, small penis, gynaecomastia and tall stature. Cytogenetic study is the only way to differentiate between chromosomal abnormality and other androgen deficiency disorders. The aim of this study was to investigate cytogenetic and phenotypic profile of Klinefelter syndrome in a group of referred patients with suspected genetic disorders.Methods

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Cobanogullari, H., N. Akcan, and M. C. Ergoren. "Non-Invasive Screening Test Paradox in a Case Born with Mixed Gonadal Dysgenesis (45,X/46,Xy)." Balkan Journal of Medical Genetics 26, no. 1 (2023): 57–62. http://dx.doi.org/10.2478/bjmg-2023-0007.

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Abstract Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal trisomy 13, 18, and 21 and often for sex chromosomal aneuploidies (SCAs). Although the testing is also used for sex chromosomal aneuploidies, it is not as efficient as it is for common trisomies. In this particular study, we present a case for whom the NIPT diagnosis was originally 45,X and who was diagnosed with mixed gonadal dysgenesis 45,X/46,XY after birth. A 38-year-old [G3P3] pregnant woman underwent NIPT at 15 weeks’ gestation and was found to be at probable risk for 45,X. Because cordocentesis is an invas

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Law, Jennifer, Judith Ross, Chijioke Ikomi, Julie Blatt, Alyssa Truxon, and Corinne Lawler. "PMON190 Characterization Of Lymphedema With Respect To Phenotype and Karyotype in Patients With Turner Syndrome." Journal of the Endocrine Society 6, Supplement_1 (2022): A620—A621. http://dx.doi.org/10.1210/jendso/bvac150.1286.

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Abstract We characterize karyotypic and phenotypic features of a cohort of patients with Turner syndrome (TS) and lymphedema (LD). Medical records from two large TS specialized pediatric clinics were reviewed retrospectively. Seventy-one patients with TS and history of LD were identified, mean age 15.9 ± 7.71 years. Reported LD onset was in infancy in 72% of patients, with 56% (40/71) reporting LD present at birth. LD affected hands in 29% of patients, feet in 57%, and both hands and feet in 25%. 46% reported LD was a current problem, with 11% stating it was present but not a problem. 73% (52/

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Kulbachuk, N. V., S. V. Matviiuk, S. V. Bilokon, and O. L. Sechnyak. "The kariotype variability in children with Down syndrome from the Odesa region." Zaporozhye Medical Journal 23, no. 1 (2021): 77–82. http://dx.doi.org/10.14739/2310-1210.2021.1.224888.

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The aim of the work is to analyze the frequency of cytogenetic variants of Down syndrome among patients in Odesa and the region, as well as to identify combined karyotype anomalies. Materials and methods. Studies were conducted between 2013–2018 years in Odesa Specialized Medical Genetic Center. The experimental group was formed of patients with cytogenetically confirmed Down syndrome. Chromosomes were painted according to GTG method and identified according to ISCN 2013. Results. Among patients with Down syndrome, in 93.9 % of cases complete trisomy 21 was observed, the translocation form was

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Пожитнова, В. О., В. В. Свиридова, А. В. Кислова, Ф. С. Свиридов, Д. Г. Жегло, and Е. С. Воронина. "Karyotype abnormalities in induced pluripotent stem cells derived from Russian donors." Nauchno-prakticheskii zhurnal «Medicinskaia genetika 22, no. 12 (2023): 59–66. http://dx.doi.org/10.25557/2073-7998.2023.12.59-66.

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Введение. Кариотипирование индуцированных плюрипотентных стволовых клеток (иПСК) − общепринятый этап характеристики генетической стабильности клеточных линий, необходимый при их регистрации и дальнейшем научном и медицинском использовании. Для текущего мониторинга возникновения рекуррентных аномалий кариотипа допустимо применение таргетных методов анализа (FISH, количественная ПЦР), однако спектр возникающих хромосомных аберраций может зависеть от особенностей протоколов культивирования клеток, принятых в конкретных лабораториях. Цель: выявление аномалий кариотипа в выборке линий иПСК, получен

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Vahidi, Parisa, Seyed Ali Rahmani, and Nahid Hadige Rezvan. "Study of pregnant women with high risk of fetus abnormalities by routine cytogenetics method (karyotyping) and molecular method (FISH) by using X and Y probs and comparing the advantages and disadvantages of these methods in the northwest of Iran's patients." Medical Journal of Tabriz University of Medical Sciences and Health Services 43, no. 1 (2021): 108–15. http://dx.doi.org/10.34172/mj.2021.035.

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Background: The health of the fetus during the 9 months of pregnancy is very important for every pregnant couple. Identifying carriers of the genetic diseases and their diagnosis before birth, controls the disease's prevalence and does not impose huge costs on the patient's family and community. This study aimed to evaluate the rapid prenatal diagnosis importance in the chromosomal abnormalities identification. Methods: 50 amniotic fluid samples were studied by karyotyping and fluorescence in situ hybridization (FISH). Karyotyping was performed on me taphase chromosomes to identify all the chr

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Hsiao, Ching-Hua, Jia-Shing Chen, Yu-Ming Shiao, et al. "Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies." Journal of Clinical Medicine 11, no. 13 (2022): 3624. http://dx.doi.org/10.3390/jcm11133624.

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Background: To assess the value of chromosomal microarray analysis (CMA) during the prenatal diagnosis of high-risk pregnancies. Methods: Between January 2016 and November 2021, we included 178 chorionic villi and 859 amniocentesis samples from consecutive cases at a multiple tertiary hospital. Each of these high-risk singleton pregnancies had at least one of the following indications: (1) advanced maternal age (AMA; ≥35 years; 546, 52.7%); (2) fetal structural abnormality on ultrasound (197, 19.0%); (3) high-risk first- or second-trimester Down syndrome screen (189, 18.2%), including increase

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Diociaiuti, Andrea, Roberta Rotunno, Elisa Pisaneschi, et al. "Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study." Biomedicines 10, no. 6 (2022): 1460. http://dx.doi.org/10.3390/biomedicines10061460.

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Sporadic vascular malformations (VMs) are a large group of disorders of the blood and lymphatic vessels caused by somatic mutations in several genes—mainly regulating the RAS/MAPK/ERK and PI3K/AKT/mTOR pathways. We performed a cross-sectional study of 43 patients affected with sporadic VMs, who had received molecular diagnosis by high-depth targeted next-generation sequencing in our center. Clinical and imaging features were correlated with the sequence variants identified in lesional tissues. Six of nine patients with capillary malformation and overgrowth (CMO) carried the recurrent GNAQ soma

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Маркова, Ж. Г., М. Е. Миньженкова, Ф. М. Бостанова, and Н. В. Шилова. "Clinical and molecular cytogenetic characteristics of the unique pseudotricentric X chromosome." Nauchno-prakticheskii zhurnal «Medicinskaia genetika 22, no. 8 (2023): 44–51. http://dx.doi.org/10.25557/2073-7998.2023.08.44-51.

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Структурные и числовые перестройки половых хромосом являются наиболее распространенными хромосомными аномалиями, совместимыми с живорождением. Гоносомные аномалии, как правило, имеют менее выраженные клинические последствия по сравнению с числовыми или структурными аутосомными перестройками. Структурные аномалии хромосомы Х в мозаичном варианте часто обнаруживают в кариотипе у женщин с фенотипическими проявлениями синдрома Шерешевского-Тернера. Однако у пациенток со структурно перестроенной половой хромосомой аномалии развития могут отсутствовать. Это связанно с отсутствием клона 45,X и селект

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Shtaut, M. I., O. A. Solovova, T. M. Sorokina, et al. "Spermatogenesis and meiosis defects in patients with mosaicism and/or the Y chromosome structural abnormalities." Andrology and Genital Surgery 25, no. 4 (2024): 64–76. https://doi.org/10.62968/2070-9781-2024-25-4-64-76.

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Unbalanced structural Y chromosome abnormalities and pathogenic Y chromosome microdeletions are common genetic cause of severe male infertility due to spermatogenesis damage. Sex chromosomes (gonosomes) abnormalities are often associated with mosaicism the presence and percentage of gonosomal mosaicism may modify the damage of the negative effect of sex chromosome abnormalities and X- and Y-linked mutations. The combined effect of structural abnormalities and mosaicism of the Y chromosome on male fertility and semen parameters has not been sufficiently studied. The aim of the study was the ana

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Tvrdik, Tatiana, Kristian T. Schafernak, Jeffrey R. Jacobsen, Reha Toydemir, Alexandra M. Walsh, and Bo Hong. "Clinical and Cytogenomic Features of Lymphoblastic Leukemia with Intrachromosomal Amplification of Chromosome 21 (iAMP21) in the Context of Constitutional Ring Chromosome 21." Blood 134, Supplement_1 (2019): 5208. http://dx.doi.org/10.1182/blood-2019-123766.

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Constitutional ring chromosome 21, r(21)c, is a rare chromosome abnormality associated with variable clinical features that range from mild dysmorphism to severe congenital anomalies and intellectual disability. Recently, r(21)c has been reported to predispose to B-cell acute lymphoblastic leukemia (B-ALL) with intrachromosomal amplification of chromosome 21 (iAMP21), a distinct subgroup of high-risk pediatric B-ALL. Only a few iAMP21-B-ALL cases with r(21)c have been reported to date. The mechanism of leukemogenesis of r(21)c has not been entirely elucidated. Here we report an 11-year-old boy

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Steidl, Christian, Rainer Schabla, Ulrich Germing, et al. "Sequential Cytogenetic Analyses of 577 Patients with Myelodysplastic Syndromes: Correlations between Initial Karyotype, Cytogenetic Dynamics, and Clinical Course." Blood 106, no. 11 (2005): 2531. http://dx.doi.org/10.1182/blood.v106.11.2531.2531.

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Abstract Myelodysplastic syndromes are dynamic diseases presenting with different clinical courses ranging from almost stable courses to rapid progression to acute myeloid leukemias. Karyotype is one of the most important prognostic factors and defines subgroups of favorable, intermediate and adverse prognosis. So far, comparably low attention has been payed on karyotypic changes occuring in sequential cytogentic examinations during the course of the disease. We retrospectively examined karyotypes of 577 patients with MDS or AML with previous history of MDS and at least two successfully perfor

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Massara, Lucía S., Marisol Delea, Lucía Espeche, et al. "Double Autosomal/Gonosomal Mosaic Trisomy 47,XXX/47,XX,+14 in a Newborn with Multiple Congenital Anomalies." Cytogenetic and Genome Research 159, no. 3 (2019): 137–42. http://dx.doi.org/10.1159/000504238.

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Chromosomal trisomies are the most frequent major chromosomal anomalies in humans and can be present in a mosaic or a non-mosaic constitution. We report the first case of a newborn girl presenting with multiple congenital anomalies and a double mosaic trisomy involving chromosome 14 and the X chromosome detected by array CGH. Karyotype analysis revealed a double mosaic with 2 independent abnormal cell lines and the absence of 46,XX and 48,XXX,+14 cell lineages. The patient showed most of the clinical characteristics of mosaic trisomy 14. Analysis of autosomal DNA markers in the proband's blood

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Eggenhuizen, Geerke M., Attie Go, Maria P. H. Koster, Esther B. Baart, and Robert Jan Galjaard. "Confined placental mosaicism and the association with pregnancy outcome and fetal growth: a review of the literature." Human Reproduction Update 27, no. 5 (2021): 885–903. http://dx.doi.org/10.1093/humupd/dmab009.

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Abstract BACKGROUND Chromosomal mosaicism can be detected in different stages of early life: in cleavage stage embryos, in blastocysts and biopsied cells from blastocysts during preimplantation genetic testing for aneuploidies (PGT-A) and later during prenatal testing, as well as after birth in cord blood. Mosaicism at all different stages can be associated with adverse pregnancy outcomes. There is an onward discussion about whether blastocysts diagnosed as chromosomally mosaic by PGT-A should be considered safe for transfer. An accurate diagnosis of mosaicism remains technically challenging a

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Berti, Emilio, Daniele Fanoni, Francesco Onida, et al. "Molecular Analysis of Primary Cutaneous Aggressive T-Cell Lymphomas: the Epidermotropic CD8+, the Pleomorphic CD8+ and the Gamma Delta Subsets." Blood 120, no. 21 (2012): 2713. http://dx.doi.org/10.1182/blood.v120.21.2713.2713.

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Abstract Abstract 2713 Primary cutaneous T-cell lymphomas (CTCL) are usually characterized by a T-helper CD4+ immunophenotype and show an indolent clinical course; on the contrary, cases harbouring a CD8+ cytotoxic immunophenotype exhibiting epidermotropism (AECTCL) or pleomorphic morphology (PTL-NOS), as well as cases with gamma-delta + (CGDL) immunophenotype, display a very different course. Clinically, these tumours are very aggressive, with poor outcome in adults. Chemotherapy, preferably based on intensive CHOP-like regimens, represents the mainstay of treatment, when possible followed by

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Boulanger, L., P. Chavatte-Palmer, D. Lebouhris, et al. "325 GENERATION OF A CLONED GREEN FLUORESCENT PROTEIN (GFP) EXPRESSING TRANSGENIC SHEEP FOR MUSCLE STEM CELL GRAFT EXPERIMENTS." Reproduction, Fertility and Development 23, no. 1 (2011): 259. http://dx.doi.org/10.1071/rdv23n1ab325.

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Sheep are a good model for cardiopathy and surgery training in medical studies because organ volumes are similar to humans. Grafting of stem cells collected from skeletal muscles is a major area of research into treatments for heart failure. To establish an efficient protocol it is first necessary to follow the fate of grafted cells in an animal model. The aim of the project was to obtain 2 cloned sheep of the same genetic background, 1 conventional and 1 expressing green fluorescent protein (GFP), to be used for graft experiments. First, chimeric transgenic fetuses were generated by transduct

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KROISEL, P. M. "Skin pigmentary anomalies in a mosaic form of partial tetrasomy 3q." Journal of Medical Genetics 37, no. 9 (2000): 723–25. http://dx.doi.org/10.1136/jmg.37.9.723.

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Van den Enden, A., M. R. Verschraegen-Spae, N. Van Roy, W. Decaluwe, C. De Praeter, and F. Speleman. "Mosaic tetrasomy 15q25→qter in a newborn infant with multiple anomalies." American Journal of Medical Genetics 63, no. 3 (1996): 482–85. http://dx.doi.org/10.1002/(sici)1096-8628(19960614)63:3<482::aid-ajmg13>3.0.co;2-i.

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Tidrenczel, Zsolt, Erika P. Tardy, Ildikó Böjtös, et al. "A ritka kromoszóma-rendellenességek és a fetoplacentaris mozaikosság jelentősége a praenatalis diagnosztikában a nem invazív szűrővizsgálatok tükrében." Orvosi Hetilap 162, no. 29 (2021): 1156–65. http://dx.doi.org/10.1556/650.2021.32098.

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Összefoglaló. Bevezetés és célkitűzés: A gyakori autoszomális trisomiák és a nemi kromoszómaeltérések a mikroszkóppal észlelhető kromoszóma-rendellenességek kb. 80–85%-át képviselik. A ritka kromoszóma-rendellenességek klinikai következménye jelentős, kimutatásukat a jelenlegi szűrővizsgálatok ugyan nem célozzák, de a teljes kromoszómaszerelvényt vizsgáló, nem invazív praenatalis tesztelés új lehetőséget nyitott a korai felismerésükre. Módszer: Retrospektív analízis (2014–2019) a mikroszkóppal kimutatható kromoszóma-rendellenességek eloszlására, a fetoplacentaris mozaikosság előfordulására, kl

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