Relevant bibliographies by topics / Normal Karyotype

Contents

  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers
  6. Reports

Academic literature on the topic 'Normal Karyotype'

Author: Grafiati
Published: 9 March 2023
Last updated: 19 July 2025

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Journal articles on the topic "Normal Karyotype"

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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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Pinar, Halit, Marshall Carpenter, Benjamin J. Martin, and Umadevi Tantravahi. "Utility of Fetal Karyotype in the Evaluation of Phenotypically Abnormal Stillbirths." Pediatric and Developmental Pathology 12, no. 3 (2009): 217–21. http://dx.doi.org/10.2350/07-07-0307.1.

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The objectives of this study are to test the hypothesis that stillbirths without aneuploidy-associated phenotypes have a low incidence of karyotypic abnormalities, similar among those with and without other anatomic defects. We employed a uniform postmortem protocol to examine fetuses and placentas in 962 consecutive stillbirths measuring ≥20 weeks in clinically determined gestational age submitted to the Women and Infants Hospital Division of Perinatal Pathology from 1990 through 2005. Classification of anatomic (macroscopic) abnormalities was based on a priori criteria. Anatomic fetal abnorm
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Göhring, Gudrun, Kathrin Thomay, Caroline Fedder, Winfried Hofmann, Hans Heinrich Kreipe, and Brigitte Schlegelberger. "Telomere Shortening, TP53 Mutations and Deletions in Chronic Lymphocytic Leukemia Result in Increased Chromosomal Instability and Breakpoint Clustering in Heterochromatic Regions." Blood 128, no. 22 (2016): 3220. http://dx.doi.org/10.1182/blood.v128.22.3220.3220.

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Abstract Complex karyotypes are associated with a poor prognosis in chronic lymphocytic leukemia (CLL). Using mFISH, iFISHand T/C FISH we thoroughly characterized 59 CLL patients regarding parameters known to be involved in chromosomal instability: status of the genes ATM and TP53 and telomere length (10 patients with a normal karyotype, 10 patients with an isolated deletion 11q, 19 patients with a complex karyotype without a deletion 11q and 20 patients with a complex karyotype including a deletion 11q). Among the patients with a complex karyotype, 29 of 39 (74%) showed a karyotypic evolution
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Feng, Qiutian, and Jian Huang. "Cytogenetic Abnormalities Lead to Poor Prognosis in Patients with Myelofibrosis, Especially Postessential Thrombocythemia Myelofibrosis and Postpolycythemia Vera Myelofibrosis: A Multicenter Retrospective Study." Blood 144, Supplement 1 (2024): 6638. https://doi.org/10.1182/blood-2024-205559.

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For patients with myelofibrosis (MF), personalized treatment planning based on disease risk stratification and symptom assessment is typically carried out. Some prognostic scoring systems applicable to overt Primary myelofibrosis(overt PMF) patients may not accurately categorize the prognosis of postessential thrombocythemia myelofibrosis (post-ET MF) and postpolycythemia vera myelofibrosis (post-PV MF) patients. Currently, the prognostic model for myelofibrosis secondary to postpolycythemia vera(PV) and thrombocythemia(ET) (MYSEC-PM) involves only clinical features and driver gene mutations,
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Zeng, Xiangzong, Min Dai, Yu Zhang, Lingling Zhou, Ya Zhou, and Qifa Liu. "Somatic Mutations Predict Poor Prognosis in Myelodysplastic Syndrome Patients with Normal Karyotypes." Blood 136, Supplement 1 (2020): 44–45. http://dx.doi.org/10.1182/blood-2020-138368.

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Purpose: Somatic mutations are common in myelodysplastic syndrome (MDS), but its risk stratification is mainly based on cytogenetics. This study was to explore the prognostic significance of somatic mutations in MDS patients with normal karyotypes. Patients and Methods: Three hundred and four patients with MDS were enrolled in this retrospective study. A genomic panel of 127 gene targets were detected by next-generation sequencing. Results: Two hundred and Eighty-one (92.4%) patients carried at least one somatic mutation, while cytogenetics identified abnormalities in 140 (46.1%) patients. The
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Xiao, Yajuan, Yuanlu Huang, Na Xu, et al. "Chromosomal Instability: A Probable Unfavorable Prognostic Factor For Patients Of Myeloidysplastic Syndromes." Blood 122, no. 21 (2013): 5243. http://dx.doi.org/10.1182/blood.v122.21.5243.5243.

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Abstract Objective Myelodysplastic syndromes (MDS) are a group of heterogeneous hematopoetic stem cell clonal disorders with a high frequency of karyotypic abnormalities (40-60%). Among karyotypic abnormalities, abnormal chromosome numbers (aneuploidy) occurs frequently. In aneuploidy, chromosomal instability (CIN) is defined as persistent mis-segregation of whole chromosomes and is caused by defects during mitosis with an odd number of chromosomes. CIN is associated with tumor heterogenesis, multidrug resistance and aggressiveness in solid tumor. Hence, we performed a one-center study on MDS
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Almefty, Kaith K., Svetlana Pravdenkova, Jeffrey R. Sawyer, and Ossama Al-Mefty. "Impact of cytogenetic abnormalities on the management of skull base chordomas." Journal of Neurosurgery 110, no. 4 (2009): 715–24. http://dx.doi.org/10.3171/2008.9.jns08285.

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Object Cytogenetic studies of chordomas are scarce and show multiple changes involving different chromosomes. These abnormalities are implicated in the pathogenesis of chordoma, but the clinical significance of these changes is yet to be determined. In this study, the authors discuss the cytogenetic changes in a large series of skull base chordomas with long-term follow-up and focus on the impact of these changes on the prognosis, progression, and management of the disease. Methods The karyotypes of chordomas in 64 patients (36 men and 28 women) were studied in relation to survival and recurre
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Hasanova A.T. and Jafarova G.A. "Relationship of human heterochromatin and congenital malformations." Journal of Theoretical, Clinical and Experimental Morphology 2, no. 3-4 (2020): 54–56. http://dx.doi.org/10.28942/jtcem.v2i3-4.121.

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Aim. The variability of centromeric heterochromatin of the chromosome pairs 1,9 and 16 was studied in material pro- vided by the Cytogenetic Counselling Centre.
 Materials and methods. The size of bands 1q12, 9q12 and 16q11 was classified as normal, larger, very large, narrow and pericentric inversion. The karyotypes under study were divided into four groups: (I) from persons with abnormal karyotype and abnor-mal phenotype, ( I I ) from persons with abnormal phenotype and normal karyotype, (III) from healthy nearest relatives (parents and sibs) of persons with abnormal phenotype and karyo
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Guha, Debasree, and Sayan Banerjee. "Cyclopia syndrome with normal karyotype." Indian Journal of Medical Research 152, no. 7 (2020): 57. http://dx.doi.org/10.4103/ijmr.ijmr_1893_19.

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Beck, Richard J., and Noemi Andor. "Abstract 2486: Decoding tumor evolution through fitness landscapes of aneuploid cells." Cancer Research 85, no. 8_Supplement_1 (2025): 2486. https://doi.org/10.1158/1538-7445.am2025-2486.

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Abstract Aneuploidy, prevalent in most solid tumors, significantly alters cellular phenotype and fitness. Despite its critical role in tumor evolution, a detailed quantitative understanding of its evolutionary dynamics remains elusive. To address this gap, we developed ALFA-K, a novel method to infer the fitness landscape of chromosome-level karyotypes. Utilizing longitudinal single-cell karyotype data from evolving cell populations, our method estimates the fitness of thousands of karyotypes proximal to the input data in karyotype space, enabling predictions of unseen karyotypes. We validated
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Dissertations / Theses on the topic "Normal Karyotype"

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Smith, S. L. L. "Elucidating molecular mechanisms of leukaemogenesis in normal karyotype AML." Thesis, University College London (University of London), 2008. http://discovery.ucl.ac.uk/1445120/.

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The aim of this thesis was to examine the role that gene specific mutations play in leukaemogenesis of normal karyotype (NK) acute myeloid leukaemias (AMLs), by studying the number of genes involved, types of mutations, order by which they arise and their function. AML is a stem cell disease in which the bulk of the disease is perpetuated by a rare population of leukaemic stem cells (LSCs), which arise due to an accumulation of genetic events within the target cell. Eight genes known to be mutated in AML were screened from a panel of 88 NK AML patients. One hundred and twenty-seven mutations w
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Traikov, Sofia. "Loss of heterozygosity in acute myeloid leukaemia with normal karyotype." Doctoral thesis, Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2009. http://nbn-resolving.de/urn:nbn:de:bsz:14-qucosa-25082.

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Loss of heterozygosity (LOH) is detectable in many forms of cancer including leukaemia. It contributes to tumorigenesis through the loss of one of the two alleles of one tumor suppressor gene at a given locus, caused by deletion or uniparental disomy (UPD). UPD can only be the result of homologous recombination. Little is known about the mechanisms of UPD and what connection this aberration has with the outcome of this disease. In this study, 146 patients with primary AML were analysed using a novel technique based on single nucleotide polymorphisms (SNPs). Leukaemic cells and healthy T-cell
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Romagnoli, Simone. "Identification of Structural Variants in Acute Myeloid Leukemia with normal karyotype patients by using long-reads sequencing technology." Doctoral thesis, Università di Siena, 2021. http://hdl.handle.net/11365/1157520.

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Acute Myeloid Leukemia (AML) accounts for approximately 25% of all leukemias in adults in the Western world, and therefore is the most frequent form of blood neoplasia. Leukemic stem cells show abnormal proliferation, activation of antiapoptotic pathways and the impairment normal cell differentiation resulting in the dysregulated production of not functional blood cells, known as blast. AML is an aggressive disease, with a relative survival rate for all ages 5 years after diagnosis of 29.5%, the clinical manifestations of AML reflect the accumulation of malignant, poorly differentiated myeloid
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Grummitt, Charles Gordon. "The discovery and characterisation of the C-terminal domain of nucleophosmin : implications for Acute Myeloid Leukaemia with normal karyotype." Thesis, University of Cambridge, 2008. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612508.

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Traikov, Sofia [Verfasser], Gerold [Akademischer Betreuer] Barth, and Rolf [Akademischer Betreuer] Jessberger. "Loss of heterozygosity in acute myeloid leukaemia with normal karyotype / Sofia Traikov. Gutachter: Gerold Barth ; Rolf Jessberger. Betreuer: Gerold Barth." Dresden : Saechsische Landesbibliothek- Staats- und Universitaetsbibliothek Dresden, 2009. http://d-nb.info/1063279976/34.

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Borg, Isabella. "A clinical and molecular cytogenetic study of patients with mental retardation, developmental delay and dysmorphism associated with an apparently normal or balanced rearranged karyotype." Thesis, University of Cambridge, 2003. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.619597.

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Matejka, Michèle. "Etude cytogenetique du mouton (ovis aries l. ) : caryotype normal et variants chromosomiques." Paris 7, 1987. http://www.theses.fr/1987PA077055.

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KOH, THONG CHUAN EUGENE. "Down regulation of NLK by MIR-221/222 modulates chemosensitivity to glucocorticoids in pediatric normal karyotype b-cell precursor acute lymphoblastic leukemia. La downregolazione di nemo-like kinase indotta dai MIR-221/222 modula chemiosensibilità ai glucocorticoidi nella pediatrico b-cell precursor leucemia linfattica acuta." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2012. http://hdl.handle.net/10281/30498.

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Normal karyotype pediatric B-cell precursor ALL patients are heterogeneous with respect to chemotherapy response, relapse rates and prognosis and the reason is unknown. These patients are treated with a standard protocol, and stratified using MRD methodology that shows they have variable responses and predicted outcomes. This study aims to determine the reasons behind such heterogeneity. This study shows that through miRNA profiling, miR-221/222 are differentially expressed in normal karyotype patients and are up regulated in Poor Responder patients. Through proliferation, apoptosis, viability
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Király, Franz. "Vergleich verschiedener Postremissionsstrategien bei der akuten myeloischen Leukämie mit normalem Karyotyp." [S.l. : s.n.], 2008. http://nbn-resolving.de/urn:nbn:de:bsz:289-vts-64963.

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Stirner, Christoph [Verfasser]. "Evaluation prognostischer Genexpressionsprofile bei der AML mit normalem Karyotyp / Christoph Stirner." Ulm : Universität Ulm. Medizinische Fakultät, 2011. http://d-nb.info/1018024670/34.

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Books on the topic "Normal Karyotype"

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Archer, Nick, and Nicky Manning. Nuchal translucency and the heart. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199230709.003.0019.

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Introduction 264The nuchal scan 266Management 268Nuchal translucency describes sonolucent tissue in the posterior aspect of the fetal neck; the size can be measured with accuracy during the 1st trimester of pregnancy and an increase in the measurement is associated with an increased risk of chromosomal abnormality. If fetal karyotype is normal: ...
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Book chapters on the topic "Normal Karyotype"

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Velagaleti, Gopalrao V. N., and Vijay S. Tonk. "Methods of Studying Human Chromosomes and Nomenclature. The Normal Human Karyotype." In Atlas of Human Chromosome Heteromorphisms. Springer Netherlands, 2004. http://dx.doi.org/10.1007/978-94-017-0433-5_2.

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Lemež, P., J. Gáliková, and T. Haas. "Are there Two Main Categories of de Novo Acute Myeloid Leukemias with a Normal Karyotype?" In Haematology and Blood Transfusion / Hämatologie und Bluttransfusion. Springer Berlin Heidelberg, 2001. http://dx.doi.org/10.1007/978-3-642-18156-6_10.

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Chudoba, I., S. Metzkel, K. Blumenstengel, et al. "FISH Analysis in Acute Leukemia with Initially Abnormal Karyotypes and Normal Karyotypes in Relapse." In Acute Leukemias VI. Springer Berlin Heidelberg, 1997. http://dx.doi.org/10.1007/978-3-642-60377-8_10.

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Rushton, D. I. "The Nature and Causes of Spontaneous Abortions with Normal Karyotypes." In Issues and Reviews in Teratology. Springer US, 1985. http://dx.doi.org/10.1007/978-1-4613-2495-9_2.

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Hasserjian, R. P. "Normal-Karyotype Acute Myeloid Leukemia." In Pathobiology of Human Disease. Elsevier, 2014. http://dx.doi.org/10.1016/b978-0-12-386456-7.04103-4.

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Meschede, Dieter, and Eberhard Nieschlag. "Klinefelter’s syndrome." In Oxford Textbook of Endocrinology and Diabetes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.9076.

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When in 1942 Harry Klinefelter and his colleagues described the condition carrying his name (1), its aetiology was unknown. In 1959 Jacobs and Strong (2) recognized the chromosomal basis of the disorder, until then solely defined through a set of clinical criteria. Ever since, diagnosing Klinefelter’s syndrome has required the demonstration of the 47,XXY karyotype or one of its rare variants. The occasional patient with a normal karyotype who fulfils the original clinical criteria, namely small testes, azoospermia, gynaecomastia, and elevated urinary FSH, is no longer considered as having Klinefelter’s syndrome (3). Individuals with the karyotypes 48,XXYY, 48,XXXY, and 49,XXXXY are also subsumed under the Klinefelter’s syndrome category. While these patients display all the signs and symptoms typical of the 47,XXY karyotype, they are burdened by significant additional health problems, most notably mental retardation, and malformations. For this reason, these conditions should be designated as 48,XXYY, 48,XXXY, or 49,XXXXY syndromes, respectively, and should be set apart from Klinefelter’s syndrome in the narrower sense.
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Meschede, Dieter, and Eberhard Nieschlag. "XYY male." In Oxford Textbook of Endocrinology and Diabetes. Oxford University Press, 2011. http://dx.doi.org/10.1093/med/9780199235292.003.9082.

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Men with a 47,XYY karyotype do not present with a well-defined clinical syndrome. The diagnosis relies entirely on the cytogenetic demonstration of two Y chromosomes, accompanying an otherwise normal set of chromosomes. Cases with 47,XYY/46,XY mosaicism are also subsumed under the XYY male category. The 48,XXYY karyotype is briefly discussed in Chapter 9.4.3.
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Ahmed, S. Faisal, and Angela K. Lucas-Herald. "Normal and abnormal sexual differentiation." In Oxford Textbook of Medicine, edited by Mark Gurnell. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0257.

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Human sex development follows an orderly sequence of embryological events coordinated by a cascade of gene expression and hormone production in a time- and concentration-dependent manner. Underpinning the entire process of fetal sex development is the simple mantra: sex chromosomes (XX or XY) dictate the gonadotype (ovary or testis), which then dictates the somatotype (female or male phenotype). The constitutive sex in fetal development is female. Disorders of sex development (DSD) can be classified into three broad categories based on the knowledge of the karyotype: sex chromosome abnormality (e.g. X/XY, mixed gonadal dysgenesis); XX DSD (e.g. congenital adrenal hyperplasia); XY DSD (e.g. partial androgen insensitivity syndrome).
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Butler, Gary. "Normal growth and its disorders." In Oxford Textbook of Medicine, edited by Mark Gurnell. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198746690.003.0255.

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Normal growth has three phases: rapid in infancy and adolescence, steady during mid childhood. Height should always be interpreted within the context of the family: short or tall stature is often familial; idiopathic short stature occurs when the height of a normal child is below their target range. Constitutional growth delay is a common normal variant, but poor growth and/or weight gain may be associated with recognized and unrecognized chronic disease, and also with psychosocial deprivation. Investigation must exclude conditions including hypothyroidism, coeliac disease, inflammatory bowel disease, and chronic kidney disease. Turner syndrome (karyotype 45,X) should be suspected in all girls presenting with growth failure, and skeletal dysplasia when a child is either short for their family or has one parent of significant short stature.
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Butler, Gary, and Jeremy Kirk. "Differences of sex development (DSD)." In Paediatric Endocrinology and Diabetes. Oxford University Press, 2020. http://dx.doi.org/10.1093/med/9780198786337.003.0011.

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• Embryology: the gonad is initially bipotential. • The testes develop under active control of SRY and other genes. Disorders of sex development (DSDs) are classified according to the karyotype: • 46,XY DSD (incomplete masculinization of a male fetus): ◦ The commonest cause is androgen insensitivity syndrome (AIS): ■ mutations in androgen receptor (AR) gene on X chromosome in complete forms ■ alterations in androgen binding in partial forms. ◦ Abnormalities of testosterone synthesis and conversion, may be: ■ isolated, e.g. 17β‎HSD, 5α‎RD ■ occur in association with defects in steroid biosynthesis, e.g. StAR, 3β‎HSD. • Pure 46,XY gonadal dysgenesis (Swyer syndrome): ◦ phenotype unambiguously female; may present with delayed puberty ◦ Müllerian structures are present but only streak gonads are seen. • Mixed gonadal dysgenesis: ◦ usually asymmetrical, e.g. ovary/streak gonad or ovotestis ◦ karyotype is 45,X/46,XY or 46,XX/46,XY. • Pure 46,XX gonadal dysgenesis: ◦ absent puberty in a phenotypically normal female ◦ intact Müllerian structures but streak ovaries; normal genitalia. • 46,XX DSD (masculinization of a female fetus): ◦ the commonest cause is congenital adrenal hyperplasia, with the vast majority (>90%) due to 21-hydroxylase deficiency (21OHD). • Ovotesticular DSD is rare: ◦ aetiology is unknown, and karyotype usually 46,XX ◦ asymmetrical gonad development; ovary and testis or ovotestis. • DSD may also be part of other genetic syndromes, e.g. Antley–Bixler, Smith–Lemli–Opitz, trisomy 13. • Management requires careful evaluation and counselling, working as part of a multidisciplinary team.
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Conference papers on the topic "Normal Karyotype"

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Fyrberg, Anna, Kourosh Lofti, Esbjorn Paul, Christer Paul, Hareth Nahi, and Henrik Gréen. "Abstract 2757: NT5C2 single nucleotide polymorphisms affects survival and response inde novoAML patients with normal karyotype." In Proceedings: AACR 101st Annual Meeting 2010‐‐ Apr 17‐21, 2010; Washington, DC. American Association for Cancer Research, 2010. http://dx.doi.org/10.1158/1538-7445.am10-2757.

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Wolff, BM, YG Oliveira, VT Almeida, et al. "CYTOGENOMIC DELINEATION OF A RARE 15Q TRIPLICATION CASE." In Resumos do 54º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial. Zeppelini Editorial e Comunicação, 2022. http://dx.doi.org/10.5327/1516-3180.140s1.5930.

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Objective: The proximal long arm of human chromosome 15 is frequently involved in molecular rearrangements including duplications, deletions, triplications, translocations, and inversions, as well as in the formation of supernumerary marker chromosomes. It happens due to the presence of low copy repeats (LCR), which mediate non-allelic homologous recombination (NAHR), resulting in these genomic rearrangements. In this study, we made a molecular characterization of the patient and his family. Method: We report a 14-year-old boy, the product of healthy and nonconsaguineous couple who has an intr
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Silva, Bruno Custódio, Guilherme Parmigiani Bobsin, Raquel dos Santos Ramos, et al. "Clinical and neurological findings of a patient with a complex chromosome 5 alteration." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.080.

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Context: Inversion-duplication-deletion (invdupdel) involving the short arm of chromosome 5 is considered a complex and extremely rare alteration. Case report: A female patient was born prematurely at 32 weeks and was delivered by cesarean section, weighing 2,086 grams, with an Apgar score in the fifth minute of 7. After birth, she needed invasive mechanical ventilation. A nasofibrolaryngoscopy was performed, which revealed the rear projection of the tongue base. The speech-language evaluation showed a swallowing disorder. The patient needed to be tracheostomized and evolved with episodes of c
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Jakobsen Falk, Ingrid, Anna Fyrberg, Monica Hermanson, et al. "Abstract 1170: Correlation between cytidine deaminase single nucleotide polymorphisms andin vitrodrug sensitivity, DNA methylation and outcome in normal karyotype acute myelogenous leukemia." In Proceedings: AACR 104th Annual Meeting 2013; Apr 6-10, 2013; Washington, DC. American Association for Cancer Research, 2013. http://dx.doi.org/10.1158/1538-7445.am2013-1170.

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Youk, Jeonghwan, Sunghoon Cho, Daeyoon Kim, et al. "Abstract 5225: CDK11B, PTPRN2 and WDPCP were frequently duplicated genes in refractory/relapsed normal karyotype AML patients: Identifying structural variations using whole genome sequencing." In Proceedings: AACR 107th Annual Meeting 2016; April 16-20, 2016; New Orleans, LA. American Association for Cancer Research, 2016. http://dx.doi.org/10.1158/1538-7445.am2016-5225.

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Silva, Bruno Custódio, Thais Vanessa Salvador, Jéssica Karine Hartmann, et al. "Neurological findings in a patient with mosaic chromosome 8 trisomy." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.071.

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Context: Mosaic chromosome 8 trisomy is a rare genetic disease that can develop with neurological abnormalities. Case report: A male patient had a deficit in weight gain since his first month of life, in addition to delayed speech and neuropsychomotor. At 2 years old, the family noticed that he did not see well, and then began an ophthalmological investigation that resulted in the diagnosis of bilateral congenital cataract. Moreover, it was observed that the child had microcephaly, epicanthus, and strabismus converging to the right. Abdominal ultrasound showed hepatosplenomegaly and asymmetric
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Elias, Stefany, and Maria Luiza Benevides. "Verheij syndrome: a rare cause of intellectual disability." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.560.

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Case presentation: A 4-year-old boy was born to non-consanguineous parents at 38 weeks. Neonatal anthropometric measurements were normal. Since birth, he presented with global developmental delay, and muscular hypotonia. At present, he shows adequate psychosocial interaction. He has a healthy 3-year-old sister. On physical examination, there are dysmorphisms, such as prominent and pointed ears, long eyelashes, elongated face, flat occipital region, supernumerary teeth, and maxillary hypoplasia. His anthropometric measurements are normal for his age (p50). On neurological examination, he presen
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Silva, Bruno Custódio, Tainá Alano, Lennon Vidori, Paulo Ricardo Gazzola Zen, and Rafael Fabiano Machado Rosa. "Multiple contractures and their relationship with congenital amyoplasia." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.070.

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Context: Congenital amyoplasia is characterized by contractures (arthrogryposis) involving multiple large joints. Case report: The patient is a couple’s first daughter and no history of similar cases in the family. She was born at term, by cesarean delivery, weighing 3080 grams and with Apgar scores of 8 and 9. Gestational ultrasound revealed fetal akinesia, oligodramnia, and altered fetal skeletal musculature with shortening of the four limbs. During delivery, she suffered a fracture of the right femur. The patient evolved with a delay in neuropsychomotor development. On physical examination,
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Silva, Bruno Custódio, Maria Isabelle Nakano Vieira, Gisele Delazeri, et al. "Neurological findings of a patient with Patau syndrome and a nonusual clinical presentation." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.073.

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Context: Chromosome 13 trisomy, or Patau syndrome (PS), is a genetic condition characterized by multiple findings and usually poor survival rate. However, its clinical presentation can be variable. Case report: A male patient was referred for evaluation due to a syndromic aspect. He was born by normal delivery, at term, weighing 4700 g. On physical exam, at 2 months, two areas of scaly aplasia on the scalp were shown as well as left coloboma of the iris, bulbous nose with small nostrils, ears with oversized helices, micrognathia, umbilical hernia, clinodactyly of the index finger of the hand l
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Oliveira, Jefferson Borges de, Caroline Berthier Zanin, Gustavo Carreira Henriques, et al. "Pallister-Hall Syndrome - case report." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.575.

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In 1980, Hall et all described a syndrome characterized by “hamartoblastoma”, hypopituitarism, unperfurated anus, polydactyly postaxial and numerous visceral anomalies, today known as Pallister-Hall Syndrome. On the study, Hall et all reported six cases of children with that malformation syndrome - lethal on neonatal period. None of the newborns had anterior hypophysis and the hypothalamic tumor was apparent in the inferior part of the brain, going from the optic chiasm to the interpeduncular fossa. Besides, other anomalies were found, such as: laryngeal split, abnormal pulmonary lobation, ren
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Reports on the topic "Normal Karyotype"

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Tse, Kai Yeung, Ilham Utama Surya, Rima Irwinda, et al. Diagnostic Yield of Exome Sequencing in Fetuses with Sonographic Features of Skeletal Dysplasias but Normal Karyotype or Chromosomal Microarray Analysis: A Systematic Review. INPLASY - International Platform of Registered Systematic Review and Meta-analysis Protocols, 2023. http://dx.doi.org/10.37766/inplasy2023.5.0048.

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