Characterization of Prenatally Assessed De Novo Small Supernumerary Marker Chromosomes by Molecular Cytogenetics

2008 ◽  
pp. 27-38 ◽  
Author(s):  
Thomas Liehr
Keyword(s):  
De Novo ◽  
Molecular Cytogenetics ◽  
Marker Chromosomes ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

scholarly journals Characterization of Small Supernumerary Marker Chromosomes By A Simple Molecular and Molecular Cytogenetics Approach

2007 ◽  
Vol 10 (1) ◽  
pp. 33-37 ◽  
Author(s):  
T Liehr ◽  
V Trifonov ◽  
A Polityko ◽  
L Brecevic ◽  
K Mrasek ◽  
...  
Keyword(s):  
Molecular Cytogenetics ◽  
Metaphase Spread ◽  
Marker Chromosomes ◽  
Chromosomal Origin ◽  
Chromosome 20 ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

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.

Characterization of three small supernumerary marker chromosomes (sSMC) in humans

2012 ◽  
Vol 26 (1) ◽  
pp. 106-108 ◽  
Author(s):  
Jian Ou ◽  
Wei Wang ◽  
Thomas Liehr ◽  
Elisabeth Klein ◽  
Ahmed B. Hamid ◽  
...  
Keyword(s):  
Marker Chromosomes ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

scholarly journals Molecular Delineation of De Novo Small Supernumerary Marker Chromosomes in Prenatal Diagnosis, A Retrospective Study

2021 ◽  
Author(s):  
Shuang Hu ◽  
Xiangdong Kong
Keyword(s):  
Genetic Counseling ◽  
Prenatal Diagnosis ◽  
De Novo ◽  
Snp Array ◽  
Chromosome 9 ◽  
Marker Chromosomes ◽  
Number Variation ◽  
Low Coverage ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

Abstract Background To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMCs) and conduct precise genetic counseling, we retrospectively searched and reviewed de novo sSMC cases detected during prenatal diagnosis at The First Affiliated Hospital of Zhengzhou University. Chromosome karyotypes of 20,314 cases of amniotic fluid from pregnant women were performed. For 16 samples with de novo sSMCs, 10 were subjected to single-nucleotide polymorphism (SNP) array or low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis. Results Among the 10 sSMC cases, two sSMCs derived from chromosome 9, and three sSMCs derived from chromosomes 12, 18 and 22. The remaining 5 cases were not identified by SNP array or CNV-seq because they lacked euchromatin or had a low proportion of mosaicism. Four of them with a karyotype of 47,XN,+mar presented normal molecular cytogenetic results (seq[hg19] 46,XN), and the remaining patient with a karyotype of 46,XN,+mar presented with Turner syndrome (seq[hg19] 45,X). Five sSMC samples were mosaics of all 16 cases. Conclusion Considering the variable origins of sSMCs, further genetic testing of sSMCs should be performed by SNP array or CNV-seq. Detailed molecular characterization would allow precise genetic counseling for prenatal diagnosis.

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