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Clinical characteristics and management of Turner patients with a small supernumerary marker chromosome

Gynecological Endocrinology, 2021
To summarize the clinical characteristics of Turner syndrome (TS) with a small supernumerary marker chromosome (sSMC) and discuss the clinical significance and management of TS patients with sSMC.A retrospective analysis was conducted on the clinical data of 244 patients with disorders of sexual development admitted to Peking Union Medical College ...
Miao Guo, Shan Deng, Qinjie Tian
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Small supernumerary marker chromosomes (sSMC) in humans

Cytogenetic and Genome Research, 2004
Small supernumerary marker chromosomes (sSMC), defined as additional centric chromosome fragments too small to be identified or characterized unambiguously by banding cytogenetics alone, are present in 0.043% of newborn children. Several attempts have been made to correlate certain sSMC with a specific clinical picture, resulting in the description of ...
T, Liehr, U, Claussen, H, Starke
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Centromere activity in dicentric small supernumerary marker chromosomes

Chromosome Research, 2010
Twenty-five dicentric small supernumerary marker chromosomes (sSMC) derived from #13/21, #14, #15, #18, and #22 were studied by immunohistochemistry for their centromeric activity. Centromere protein (CENP)-B was applied as marker for all centromeres and CENP-C to label the active ones.
Elisabeth, Ewers, Kinya, Yoda, Ahmed B, Hamid, Anja, Weise, Marina, Manvelyan, Thomas, Liehr   +5 more
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Handling small supernumerary marker chromosomes in prenatal diagnostics

Expert Review of Molecular Diagnostics, 2009
Small supernumerary marker chromosomes (sSMCs) are structurally abnormal chromosomes that cannot be thoroughly characterized by conventional banding cytogenetics and are equal in size or smaller than chromosome 20. They are present in 0.075% of prenatal cases and, overall, approximately 3 million people worldwide are carriers of a sSMC.
Thomas, Liehr, Elisabeth, Ewers, Nadezda, Kosyakova, Vivian, Klaschka, Franziska, Rietz, Rebecca, Wagner, Anja, Weise   +6 more
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Characterization of three small supernumerary marker chromosomes (sSMC) in humans

The Journal of Maternal-Fetal & Neonatal Medicine, 2012
In the present study, three prenatally detected small supernumerary marker chromosomes (sSMC) were identified by banding cytogenetics and characterized in detail by molecular cytogenetics. In one case an sSMC(10) leading to a pericentric partial trisomy and in two cases heterochromatic sSMC derived from chromosome 22 were characterized.
Jian, Ou, Wei, Wang, Thomas, Liehr, Elisabeth, Klein, Ahmed B, Hamid, Fuxin, Wang, Chengying, Duan, Hong, Li   +7 more
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Characterizing Small Supernumerary Marker Chromosomes with Combination of Multiple Techniques

Cytogenetic and Genome Research, 2011
Fourteen cases with constitutional small supernumerary marker chromosomes (sSMCs) were assessed by combination of diverse techniques including genome-wide high-resolution chromosomal microarray (CMA), chromosome banding analysis (G banding), fluorescence in situ hybridization (FISH), and quantitative real-time PCR (qPCR).
S, Yu, S D, Fiedler, S J, Brawner, J M, Joyce, X G, Zhou, H Y, Liu   +5 more
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A small supernumerary marker chromosome X identified by in situ hybridization

Clinical Genetics, 1995
Cytogenetic analysis of a girl with moderate mental retardation and dysmorphic features revealed a 46,XX/47,XX,+mar karyotype. Fluorescence in situ hybridization using chromosome specific alpha satellite probes showed that the supernumerary marker originated from the X chromosome.
Asli Silahtaroglu, Asli N., Hacihanefio?lu, Seniha, Yilmaz, Şükriye B., Tarkan, Yelda, Cenani, As?m, Tumer, Zeynep   +5 more
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Human ring chromosomes and small supernumerary marker chromosomes—do they have telomeres?

Chromosome Research, 2012
Ring chromosomes and small supernumerary marker chromosomes (sSMC) are enigmatic types of derivative chromosomes, in which the telomeres are thought to play a crucial role in their formation and stabilization. Considering that there are only a few studies that evaluate the presence of telomeric sequences in ring chromosomes and on sSMC, here, we ...
Roberta Santos, Guilherme, Elisabeth, Klein, Claudia, Venner, Ahmed B, Hamid, Samarth, Bhatt, Maria Isabel, Melaragno, Marianne, Volleth, Anna, Polityko, Anna, Kulpanovich, Nadezda, Kosyakova, Thomas, Liehr   +10 more
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Neocentric Small Supernumerary Marker Chromosomes by Chromosome

2011
Among reported patients with small supernumerary marker chromosomes (sSMC), neocentric ones constitute one of the smallest groups. Neocentric sSMC have a centromeric constriction but no detectable alpha-satellite DNA. Thus, they are also called analphoid markers, which “carry newly derived centromeres (or ‘neocentromeres’) that are apparently formed ...
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Centric Small Supernumerary Marker Chromosomes

2011
The group of centric small supernumerary marker chromosomes (sSMC) with different chromosomal origin constitutes about 34% of the reported cases of patients with karyotype 47,XN,+mar. This group contains the most heterogeneous fraction of sSMC patients. Clinically healthy to severely affected individuals have been reported. In future it may be possible
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