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Artículos de revistas sobre el tema "Small supernumerary marker chromosomes"

Autor: Grafiati
Publicado: 4 de junio de 2021
Última modificación: 9 de febrero de 2022

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1

Liehr, T., V. Trifonov, A. Polityko, et al. "Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics Approach." Balkan Journal of Medical Genetics 10, no. 1 (2007): 33–37. http://dx.doi.org/10.2478/v10034-007-0006-5.

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Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics ApproachSmall supernumerary marker chromosomes (sSMC) are still a major problem especially in prenatal cytogenetic diagnostics and counseling. These structurally abnormal chromosomes cannot be identified or characterized unambiguously by conventional banding cytogenetics alone, and are generally about the size of or smaller than a chromosome 20 in the same metaphase spread. We describe a straightforward algorithm, based on data from 2,211 reported cases (http://www.markerchromosomes.ag.vu) to quickly characterize the sSMC's chromosomal origin.
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2

Armanet, Narjes, Lucie Tosca, Sophie Brisset, Thomas Liehr, and Gérard Tachdjian. "Small Supernumerary Marker Chromosomes in Human Infertility." Cytogenetic and Genome Research 146, no. 2 (2015): 100–108. http://dx.doi.org/10.1159/000438718.

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Small supernumerary marker chromosomes (sSMC) are structurally abnormal chromosomes that cannot be unambiguously identified by banding cytogenetics. The objective of this study was to provide an overview of sSMC frequency and characterization in a context of infertility and to review the literature describing sSMC in relation with male and female infertility. Therefore, a systematic literature review on sSMC associated with infertility was conducted by means of a PubMed literature and a sSMC database (http://ssmc-tl.com/sSMC.html) search. A total of 234 patients with infertility were identified as carriers of sSMC. All chromosomes, except chromosomes 10, 19 and the X, were involved in sSMC, and in 72% the sSMC originated from acrocentric chromosomes. Euchromatic imbalances were caused by the presence of sSMC in 30% of the cases. Putative genes have been identified in only 1.2% of sSMC associated with infertility. The implication of sSMC in infertility could be due to a partial trisomy of some genes but also to mechanical effects perturbing meiosis. Further precise molecular and interphase-architecture studies on sSMC are needed in the future to characterize the relationship between this chromosomal anomaly and human infertility.
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3

Liehr, Thomas. "Small supernumerary marker chromosomes – an update." Molecular Cytogenetics 7, Suppl 1 (2014): I11. http://dx.doi.org/10.1186/1755-8166-7-s1-i11.

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4

Liehr, Thomas, Sanja Cirkovic, Tanja Lalic, et al. "Complex small supernumerary marker chromosomes – an update." Molecular Cytogenetics 6, no. 1 (2013): 46. http://dx.doi.org/10.1186/1755-8166-6-46.

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5

Liehr, T., U. Claussen, and H. Starke. "Small supernumerary marker chromosomes (sSMC) in humans." Cytogenetic and Genome Research 107, no. 1-2 (2004): 55–67. http://dx.doi.org/10.1159/000079572.

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6

Niksic, S., V. Deretic, G. Pilic, et al. "Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18." Balkan Journal of Medical Genetics 13, no. 1 (2010): 55–58. http://dx.doi.org/10.2478/v10034-010-0020-x.

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Trisomy 21 with a Small Supernumerary Marker Chromosome Derived from Chromosomes 13/21 and 18We describe a trisomy 21 with a small supernumerary marker chromosome (sSMC) derived from chromosomes 13/21 and 18 in which the karyotype was 48, XY, +der(13 or 21)t(13 or 21;18)(13 or 21pter→13q11 or 21q11.1::18p 11.21→18pter),+21. Of the 35 case reports in the literature for a karyotype 48, XN, +21,+mar, in only 12 was the origin of the sSMC determined by fluorescence in situ hybridization (FISH), and only one was a der(13 or 21) and none were derived from two chromosomes. The influence of the partial trisomy 18p on the clinical outcome was hard to determine, however, there are reports on clinically healthy subjects for partial trisomy 18p.
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7

Liehr, Thomas, Elisabeth Ewers, Nadezda Kosyakova, et al. "Handling small supernumerary marker chromosomes in prenatal diagnostics." Expert Review of Molecular Diagnostics 9, no. 4 (2009): 317–24. http://dx.doi.org/10.1586/erm.09.17.

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8

Ewers, Elisabeth, Kinya Yoda, Ahmed B. Hamid, Anja Weise, Marina Manvelyan, and Thomas Liehr. "Centromere activity in dicentric small supernumerary marker chromosomes." Chromosome Research 18, no. 5 (2010): 555–62. http://dx.doi.org/10.1007/s10577-010-9138-7.

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9

Bellucco, Fernanda T., Rodrigo A. Fock, Hélio R. de Oliveira-Júnior, Ana B. Perez, and Maria I. Melaragno. "Complex Small Supernumerary Marker Chromosome Leading to Partial 4q/21q Duplications: Clinical Implication and Review of the Literature." Cytogenetic and Genome Research 156, no. 4 (2018): 173–78. http://dx.doi.org/10.1159/000494682.

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Complex small marker chromosomes (sSMCs) consist of chromosomal material derived from more than 1 chromosome. Complex sSMCs derived from chromosomes 4 and 21 are rare, with only 7 cases reported. Here, we describe a patient who presented with a complex sSMC derived from a maternal translocation between chromosomes 4 and 21, which was revealed by G-banding, MLPA, and array techniques. The marker chromosome der(21)t(4;21)(q32.1; q21.2)mat is composed of a 25.6-Mb 21pterq21.2 duplication and a 32.1-Mb 4q32.1q35.2 duplication. In comparison to patients with sSMCs derived from chromosomes 4 and 21, our patient showed a similar phenotype with neuropsychomotor developmental delay and facial dysmorphism as the most important finding, being a composition of the findings found in pure 4q and 21q duplications. The wide range of phenotypes associated with sSMCs emphasizes the importance of detailed cytogenomic analyses for an accurate diagnosis, prognosis, and genetic counseling.
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10

Liehr, Thomas, Kristin Mrasek, Anja Weise, et al. "Characterisation of Small Supernumerary Marker Chromosomes (sSMC) in Human." Current Genomics 5, no. 3 (2004): 279–86. http://dx.doi.org/10.2174/1389202043349354.

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11

Liehr, Thomas, Tatyana Karamysheva, Martina Merkas, et al. "Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes." Current Genomics 11, no. 6 (2010): 432–39. http://dx.doi.org/10.2174/138920210793176029.

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12

Liehr, Thomas, Rolf-Dieter Wegner, Markus Stumm, et al. "Small Supernumerary Marker Chromosomes 1 With a Normal Phenotype." Journal of the Chinese Medical Association 73, no. 4 (2010): 205–7. http://dx.doi.org/10.1016/s1726-4901(10)70042-3.

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13

Kurtas, Nehir Edibe, Luciano Xumerle, Lorena Leonardelli, et al. "Small supernumerary marker chromosomes: A legacy of trisomy rescue?" Human Mutation 40, no. 2 (2018): 193–200. http://dx.doi.org/10.1002/humu.23683.

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14

Guilherme, Roberta Santos, Elisabeth Klein, Claudia Venner, et al. "Human ring chromosomes and small supernumerary marker chromosomes—do they have telomeres?" Chromosome Research 20, no. 7 (2012): 825–35. http://dx.doi.org/10.1007/s10577-012-9316-x.

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15

Jedraszak, Guillaume, Aline Receveur, Joris Andrieux, Michèle Mathieu-Dramard, Henri Copin, and Gilles Morin. "Severe Psychomotor Delay in a Severe Presentation of Cat-Eye Syndrome." Case Reports in Genetics 2015 (2015): 1–4. http://dx.doi.org/10.1155/2015/943905.

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Cat-eye syndrome is a rare genetic syndrome of chromosomal origin. Individuals with cat-eye syndrome are characterized by the presence of preauricular pits and/or tags, anal atresia, and iris coloboma. Many reported cases also presented with variable congenital anomalies and intellectual disability. Most patients diagnosed with CES carry a small supernumerary bisatellited marker chromosome, resulting in partial tetrasomy of 22p-22q11.21. There are two types of small supernumerary marker chromosome, depending on the breakpoint site. In a very small proportion of cases, other cytogenetic anomalies are reportedly associated with the cat-eye syndrome phenotype. Here, we report a patient with cat-eye syndrome caused by a type 1 small supernumerary marker chromosome. The phenotype was atypical and included a severe developmental delay. The use of array comparative genomic hybridization ruled out the involvement of another chromosomal imbalance in the neurological phenotype. In the literature, only a few patients with cat-eye syndrome present with a severe developmental delay, and all of the latter carried an atypical partial trisomy 22 or an uncharacterized small supernumerary marker chromosome. Hence, this is the first report of a severe neurological phenotype in cat-eye syndrome with a typical type 1 small supernumerary marker chromosome. Our observation clearly complicates prognostic assessment, particularly when cat-eye syndrome is diagnosed prenatally.
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16

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 in the patient, which was confirmed using cytogenetic methods. The proband and his mother, who carried this mosaic variant, exhibited strong phenotypic variability. We also ruled out the pathogenicity of a KDM5C variant by extended validation. Our results emphasized the capacity of WES to detect mosaic SMCs and the importance of mosaic ratios in the appearance and severity of symptomatic phenotypes.
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17

Ou, Jian, Wei Wang, Thomas Liehr, et al. "Characterization of three small supernumerary marker chromosomes (sSMC) in humans." Journal of Maternal-Fetal & Neonatal Medicine 26, no. 1 (2012): 106–8. http://dx.doi.org/10.3109/14767058.2012.732129.

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18

Hashemzadeh-Chaleshtori, Morteza, Hossein Teimori, Payam Ghasemi-Dehkordi, Hamideh Jafari-Ghahfarokhi, Maryam Moradi-Chaleshtori, and Thomas Liehr. "Small supernumerary marker chromosomes and their correlation with specific syndromes." Advanced Biomedical Research 4, no. 1 (2015): 140. http://dx.doi.org/10.4103/2277-9175.161542.

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19

Vetro, Annalisa, Emmanouil Manolakos, Michael B. Petersen, et al. "Unexpected results in the constitution of small supernumerary marker chromosomes." European Journal of Medical Genetics 55, no. 3 (2012): 185–90. http://dx.doi.org/10.1016/j.ejmg.2012.01.010.

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20

Yu, S., S. D. Fiedler, S. J. Brawner, J. M. Joyce, X. G. Zhou, and H. Y. Liu. "Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques." Cytogenetic and Genome Research 136, no. 1 (2011): 6–14. http://dx.doi.org/10.1159/000334271.

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21

Liehr, T., K. Mrasek, A. Weise, et al. "Small supernumerary marker chromosomes – progress towards a genotype-phenotype correlation." Cytogenetic and Genome Research 112, no. 1-2 (2005): 23–34. http://dx.doi.org/10.1159/000087510.

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22

Starke, Heike, Angela Nietzel, Anja Weise, et al. "Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification." Human Genetics 114, no. 1 (2003): 51–67. http://dx.doi.org/10.1007/s00439-003-1016-3.

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23

Makunin, Alexey I., Marija Rajičić, Tatyana V. Karamysheva, et al. "Low-pass single-chromosome sequencing of human small supernumerary marker chromosomes (sSMCs) and Apodemus B chromosomes." Chromosoma 127, no. 3 (2018): 301–11. http://dx.doi.org/10.1007/s00412-018-0662-0.

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24

Dennis, Thomas R., Gina N. Raptoulis, Heather J. Stalker, et al. "Molecular cytogenetic characterization of two small supernumerary marker chromosomes derived from chromosome 19." American Journal of Medical Genetics Part A 149A, no. 2 (2009): 262–65. http://dx.doi.org/10.1002/ajmg.a.32512.

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25

Altıner, Şule, Nüket Yürür Kutlay, and Hatice Ilgın Ruhi. "Mosaic Small Supernumerary Marker Chromosome Derived from Five Discontinuous Regions of Chromosome 8 in a Patient with Neutropenia and Oral Aphthous Ulcer." Cytogenetic and Genome Research 160, no. 1 (2020): 11–17. http://dx.doi.org/10.1159/000505805.

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Small supernumerary marker chromosomes (sSMCs) are characterized as additional centric chromosome fragments which are too small to be classified by cytogenetic banding alone and smaller than or equal to the size of chromosome 20 of the same metaphase spread. Here, we report a patient who presented with slight neutropenia and oral aphthous ulcers. A mosaic de novo sSMC, which originated from 5 discontinuous regions of chromosome 8, was detected in the patient. Formation of the sSMC(8) can probably be explained by a multi-step process beginning with maternal meiotic nondisjunction, followed by post-zygotic anaphase lag, and resulting in chromothripsis. Chromothripsis is a chromosomal rearrangement which occurs by breakage of one or more chromosomes leading to a fusion of surviving chromosome pieces. This case is a good example for emphasizing the importance of conventional karyotyping from PHA-induced peripheral blood lymphocytes and examining tissues other than bone marrow in patients with inconsistent genotype and phenotype.
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26

Liehr, Thomas. "Small Supernumerary Marker Chromosomes (sSMCs): A Spotlight on Some Nomenclature Problems." Journal of Histochemistry & Cytochemistry 57, no. 11 (2009): 991–93. http://dx.doi.org/10.1369/jhc.2009.954370.

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27

Liehr, Thomas, Kristin Mrasek, Nadezda Kosyakova, et al. "Small supernumerary marker chromosomes (sSMC) in humans; are there B chromosomes hidden among them." Molecular Cytogenetics 1, no. 1 (2008): 12. http://dx.doi.org/10.1186/1755-8166-1-12.

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28

Liehr, T., E. Klein, K. Mrasek, et al. "Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes." Cytogenetic and Genome Research 139, no. 3 (2013): 158–63. http://dx.doi.org/10.1159/000346026.

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29

Bettio, D., N. Rizzi, D. Giardino, et al. "FISH characterization of small supernumerary marker chromosomes in two Prader-Willi patients." American Journal of Medical Genetics 68, no. 1 (1997): 99–104. http://dx.doi.org/10.1002/(sici)1096-8628(19970110)68:1<99::aid-ajmg21>3.0.co;2-i.

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30

Liehr, Thomas. "Familial small supernumerary marker chromosomes are predominantly inherited via the maternal line." Genetics in Medicine 8, no. 7 (2006): 459–62. http://dx.doi.org/10.1097/00125817-200607000-00011.

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31

Liehr, Thomas, Elisabeth Ewers, Ahmed B. Hamid, et al. "Small Supernumerary Marker Chromosomes and Uniparental Disomy Have a Story to Tell." Journal of Histochemistry & Cytochemistry 59, no. 9 (2011): 842–48. http://dx.doi.org/10.1369/0022155411412780.

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32

Karamysheva, Tatyana V., Tatyana A. Gayner, Vladimir V. Muzyka, Konstantin E. Orishchenko, and Nikolay B. Rubtsov. "Two Separate Cases: Complex Chromosomal Abnormality Involving Three Chromosomes and Small Supernumerary Marker Chromosome in Patients with Impaired Reproductive Function." Genes 11, no. 12 (2020): 1511. http://dx.doi.org/10.3390/genes11121511.

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For medical genetic counseling, estimating the chance of a child being born with chromosome abnormality is crucially important. Cytogenetic diagnostics of parents with a balanced karyotype are a special case. Such chromosome rearrangements cannot be detected with comprehensive chromosome screening. In the current paper, we consider chromosome diagnostics in two cases of chromosome rearrangement in patients with balanced karyotype and provide the results of a detailed analysis of complex chromosomal rearrangement (CCR) involving three chromosomes and a small supernumerary marker chromosome (sSMC) in a patient with impaired reproductive function. The application of fluorescent in situ hybridization, microdissection, and multicolor banding allows for describing analyzed karyotypes in detail. In the case of a CCR, such as the one described here, the probability of gamete formation with a karyotype, showing a balance of chromosome regions, is extremely low. Recommendation for the family in genetic counseling should take into account the obtained result. In the case of an sSMC, it is critically important to identify the original chromosome from which the sSMC has been derived, even if the euchromatin material is absent. Finally, we present our view on the optimal strategy of identifying and describing sSMCs, namely the production of a microdissectional DNA probe from the sSMC combined with a consequent reverse painting.
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33

Mendez-Rosado, Luis, Araceli Lantigua, Juan Galarza, Ahmed Hamid Al-Rikabi, Monika Ziegler, and Thomas Liehr. "Unusual de novo Partial Trisomy 17p12p11.2 due to Unbalanced Insertion into 5p13.1 in a Severely Affected Boy." Journal of Pediatric Genetics 06, no. 03 (2017): 165–68. http://dx.doi.org/10.1055/s-0037-1599195.

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AbstractGain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary marker chromosomes, or insertions. In a 3-year-old boy with dysmorphic features and developmental delay, chromosome analyses revealed a derivative chromosome 5. Microdissection and reverse fluorescence in situ hybridization identified the in 5p13.1 inserted part as 17p12-p11.2 material. Thus the patient suffered from a rare combination of genomic disorder, that is, Charcot-Marie-Tooth disease type 1A and Potocki-Lupski syndrome. Parental studies indicated that the abnormality was de novo in origin. As the question how this rearrangement arose cannot be answered conclusively, formal genetic counseling is warranted, which includes a discussion regarding the possibility of gonadal mosaicism. In conclusion, this case highlights that chromosome 17p is genetically relatively instable, and thus it can lead to rare chromosomal conditions.
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34

Zhang, Jianzhong, Longyu Li, Qiaoqin Li, et al. "Mosaic Ring-like Small Supernumerary Marker Chromosome and Gene Mutation in a Male With Intermittent Azoospermia: A Rare Case Report." American Journal of Men's Health 14, no. 2 (2020): 155798832091640. http://dx.doi.org/10.1177/1557988320916402.

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This study aimed to report a rare case of intermittent azoospermia and ring-like small supernumerary marker chromosomes (sSMCs). An infertile man was diagnosed with azoospermia presenting a normal male phenotype with complete masculinization. Karyotyping and polymerase chain reaction (PCR) were used to detect 16 sequence-tagged sites on the AZF subregions of the Y chromosome, and 115 candidate genes were screened for mutations. Mutations included single nucleotide variations, insertions, and deletions. Metaphase chromosomes were studied by standard trypsin-Giemsa banding; fluorescent in situ hybridization and PCR were performed to analyze specific Y chromosome regions; gene mutations were detected. Chromosomal analysis detected 117 metaphase cells; a mosaicism with marker 1 and marker 2 sSMCs in 2 metaphase cells (47, X, +mar1x2 karyotype), a mosaicism with marker 2 sSMCs in 14 metaphase cells (46, X, +mar2 karyotype), and a mosaicism with marker 1 sSMCs in 76 metaphase cells (46, X, +mar1 karyotype), coexisting with a 45,X cell line in the remaining 25 metaphase cells. PCR analysis showed the sY160 heterochromosome on the AZFc subregion was absent. Next-generation sequencing identified an asthenozoospermia-specific mutation in GAPDHS (rs2293681), and Sanger sequencing verified this mutation. This gene encodes a protein belonging to the glyceraldehyde-3-phosphate dehydrogenase family of enzymes that play an important role in carbohydrate metabolism. Like its somatic cell counterpart, this sperm-specific enzyme functions in a nicotinamide adenine dinucleotide-dependent manner to remove hydrogen and add phosphate to glyceraldehyde 3-phosphate to form 1,3-diphosphoglycerate. During spermiogenesis, this enzyme may play an important role in regulating the switch between different energy-producing pathways, and it is required for sperm motility and male fertility. A mosaic 46, X, +mar1[76]/45, X[25]/46, X, +mar2[14]/47, X, +mar1x2[2] karyotype could be the main explanation for the azoospermia/severe oligospermia, while the likely pathogenic GAPDHS intron mutation may contribute to the symptom of immotile sperms detected in the semen analysis.
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35

Liehr, Thomas, Heike Starke, Gabriele Senger, Cindy Melotte, Anja Weise, and Joris Robert Vermeesch. "Overrepresentation of small supernumerary marker chromosomes (sSMC) from chromosome 6 origin in cases with multiple sSMC." American Journal of Medical Genetics Part A 140A, no. 1 (2005): 46–51. http://dx.doi.org/10.1002/ajmg.a.31048.

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36

Guediche, N., L. Tosca, A. Kara Terki, et al. "Array comparative genomic hybridization analysis of small supernumerary marker chromosomes in human infertility." Reproductive BioMedicine Online 24, no. 1 (2012): 72–82. http://dx.doi.org/10.1016/j.rbmo.2011.08.014.

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37

Hochstenbach, Ron, Beata Nowakowska, Marianne Volleth, et al. "Multiple Small Supernumerary Marker Chromosomes Resulting from Maternal Meiosis I or II Errors." Molecular Syndromology 6, no. 5 (2015): 210–21. http://dx.doi.org/10.1159/000441408.

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38

Barranco, Laura, Marta Costa, Elisabet Lloveras, et al. "Three-Year Follow-Up of a Prenatally Ascertained Apparently Non-Mosaic sSMC(10): Delineation of a Non-Critical Region." Cytogenetic and Genome Research 147, no. 4 (2015): 209–11. http://dx.doi.org/10.1159/000444600.

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Small supernumerary marker chromosomes (sSMC) originating from chromosome 10 are rare and usually found in mosaic form. We present a de novo apparently non-mosaic sSMC(10) prenatally diagnosed in amniotic fluid and postnatally confirmed in peripheral blood. Characterization by array-CGH showed a pericentromeric duplication of 7.1 Mb of chromosome 10. The fetus did not show ultrasound abnormalities, and a normal female phenotype was observed during a 3-year postnatal follow-up. The absence of phenotypic abnormalities in the present case provides evidence of a non-critical pericentromeric region in 10p11.21q11.1 (hg19 35,355,570-42,448,569) associated with a duplication.
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39

Klein, Elisabeth, Marina Manvelyan, Isabella Simonyan, et al. "Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics." Molecular Cytogenetics 5, no. 1 (2012): 15. http://dx.doi.org/10.1186/1755-8166-5-15.

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40

Guediche, Narjes, Lucie Tosca, Marc Nouchy, et al. "Small supernumerary marker chromosomes derived from chromosomes 6 and 20 in a woman with recurrent spontaneous abortions." European Journal of Medical Genetics 55, no. 12 (2012): 737–42. http://dx.doi.org/10.1016/j.ejmg.2012.09.002.

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41

Tesner, Pavel, Marketa Vlckova, Jana Drabova, et al. "Molecular Cytogenetic Diagnostics of Marker Chromosomes: Analysis in Four Prenatal Cases and Long-Term Clinical Evaluation of Carriers." Cytogenetic and Genome Research 154, no. 4 (2018): 187–95. http://dx.doi.org/10.1159/000488790.

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The prenatal finding of a small supernumerary marker chromosome (sSMC) is a challenge for genetic counseling. Our analytic algorithm is based on sSMC frequencies and multicolor FISH to accelerate the procedure. The chromosomal origin, size, and degree of mosaicism of the sSMC then determine the prognosis. We illustrate the effectiveness on 4 prenatally identified de novo mosaic sSMCs derived from chromosomes 13/21, X, 3, and 17. Three sSMC carriers had a good prognosis and apparently healthy children were born, showing no abnormality till the last examination at the age of 4 years. One case had a poor prognosis, and the parents decided to terminate the pregnancy. Our work contributes to the laboratory and clinical management of prenatally detected sSMCs. FISH is a reliable method for fast sSMC evaluation and prognosis assessment; it prevents unnecessary delays and uncertainty, allows informed decision making, and reduces unnecessary pregnancy terminations.
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42

Patel, Bhumi, Thomas Liehr, Manisha Desai, Bindu Parikh, Jayesh Sheth, and Frenny Sheth. "Characterization of prenatally detected small Supernumerary Marker Chromosomes (sSMC) by molecular cytogenetic technique: FISH." Molecular Cytogenetics 7, Suppl 1 (2014): P55. http://dx.doi.org/10.1186/1755-8166-7-s1-p55.

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43

Liehr, T., G. E. Utine, U. Trautmann, et al. "Neocentric small supernumerary marker chromosomes (sSMC) – three more cases and review of the literature." Cytogenetic and Genome Research 118, no. 1 (2007): 31–37. http://dx.doi.org/10.1159/000106438.

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Jardim, A., J. B. Melo, E. Matoso, L. M. Pires, L. Ramos, and I. M. Carreira. "Two new cases ofde novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis." Prenatal Diagnosis 27, no. 4 (2007): 380–81. http://dx.doi.org/10.1002/pd.1650.

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Reddy, Kavita S., Swaroop Aradhya, Jeanne Meck, George Tiller, Sridevi Abboy, and Harold Bass. "A systematic analysis of small supernumerary marker chromosomes using array CGH exposes unexpected complexity." Genetics in Medicine 15, no. 1 (2012): 3–13. http://dx.doi.org/10.1038/gim.2012.78.

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Lebedev, Igor N., Tatyana V. Karamysheva, Eugeny A. Elisaphenko, et al. "Prenatal Diagnosis of Small Supernumerary Marker Chromosome 10 by Array-Based Comparative Genomic Hybridization and Microdissected Chromosome Sequencing." Biomedicines 9, no. 8 (2021): 1030. http://dx.doi.org/10.3390/biomedicines9081030.

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Interpreting the clinical significance of small supernumerary marker chromosomes (sSMCs) in prenatal diagnosis is still an urgent problem in genetic counselling regarding the fate of a pregnancy. We present a case of prenatal diagnosis of mosaic sSMC(10) in a foetus with a normal phenotype. Comprehensive cytogenomic analyses by array-based comparative genomic hybridization (aCGH), sSMC microdissection with next-generation sequencing (NGS) of microdissected library, fluorescence in situ hybridization (FISH) with locus-specific and telomere-specific DNA probes and quantitative real-time PCR revealed that sSMC(10) had a ring structure and was derived from the pericentromeric region of chromosome 10 with involvement of the 10p11.21-p11.1 and 10q11.21-q11.23 at 1.243 Mb and 7.173 Mb in size, respectively. We observed a difference in the length of sSMC(10) between NGS data of the DNA library derived from a single copy of sSMC(10), and aCGH results that may indicate instability and structural mosaicism for ring chromosomes in foetal cells. The presence of a 9 Mb euchromatin region in the analysed sSMC(10) did not lead to clinical manifestations, and a healthy girl was born at term. We suggest that the ring structure of sSMCs could influence sSMC manifestations and should be taken into account in genetic counselling during prenatal diagnosis.
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Guilherme, R. S., A. R. N. Dutra, A. B. A. Perez, et al. "First Report of a Small Supernumerary der(8;14) Marker Chromosome." Cytogenetic and Genome Research 139, no. 4 (2013): 284–88. http://dx.doi.org/10.1159/000348743.

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Čulić, Vida, Ruzica Lasan-Trcić, Thomas Liehr, et al. "A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss." Cytogenetic and Genome Research 156, no. 4 (2018): 179–84. http://dx.doi.org/10.1159/000494822.

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We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases. In FISH analysis, the patient's karyotype was mos 47,XX,+idic(15)(q11.1)mat[100]/49,XX,+idic(15)(q11.1)mat,+r(9;9;9;9),+der(9)dn[2]. The second spontaneous abortion had trisomy 9 (47,XX,+9); the third had mosaic trisomy 9 in 21% of the nuclei and isodicentric chromosome 15 in 36% of the nuclei (mos 48,XN,+9,+idic(15)(q11.1)/47,XN,+9/47,XN,+idic(15)(q11.1)/46,XN). The first and fourth abortions were not cytogenetically studied. The cause of the spontaneous abortions in this patient is likely the cryptic mosaicism for ring and minute chromosomes 9, and gonadal mosaicism is most probable, due to the 2 abortions.
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Spittel, Hannes, Florian Kubek, Katharina Kreskowski, et al. "Mitotic Stability of Small Supernumerary Marker Chromosomes: A Study Based on 93 Immortalized Cell Lines." Cytogenetic and Genome Research 142, no. 3 (2014): 151–60. http://dx.doi.org/10.1159/000360776.

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Trifonov, Vladimir, Simon Fluri, Franz Binkert, et al. "Complex rearranged small supernumerary marker chromosomes (sSMC), three new cases; evidence for an underestimated entity?" Molecular Cytogenetics 1, no. 1 (2008): 6. http://dx.doi.org/10.1186/1755-8166-1-6.

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