Two new cases ofde novo small supernumerary marker chromosomes (sSMC) detected at prenatal diagnosis

2007 ◽  
Vol 27 (4) ◽  
pp. 380-381 ◽  
Author(s):  
A. Jardim ◽  
J. B. Melo ◽  
E. Matoso ◽  
L. M. Pires ◽  
L. Ramos ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
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.

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 Objective To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMC) and conduct precise genetic counseling.Methods We retrospectively searched and reviewed the de novo sSMC cases detected during prenatal diagnosis in The First Affiliated Hospital of Zhengzhou University. Chromosome karyotypes of 20314 cases of amniotic fluid from pregnant women were performed. For 17 samples with de novo sSMC, 11 of them were subjected to single nucleotide polymorphism (SNP) array or low-coverage massively parallel copy number variation sequencing (CNV-seq) analysis. Results Among the 11 sSMC cases, two sSMC were derived from chromosome 9, four sSMC were derived from chromosome 12, 18, 22 and X , separately. For the remaining 5 cases, they were not identified by SNP array or CNV-seq because they lacked euchromatin or had low proportion mosaicism. Four of them with the karyotype of 47,XN,+mar presented normal molecular cytogenetic results (seq[hg19] 46,XN ) , the left one with the karyotype of 46,XN,+mar was Turner syndrome (seq[hg19] 45,XO). Five sSMC samples were mosaics of all these 17 cases. Conclusion Considering the variable origins of sSMC, further genetics testing of sSMC should be performed by SNP array or CNV-seq. The detailed molecular characterization would allow precise genetic counseling for prenatal diagnosis.

Clinical Impact of Somatic Mosaicism in Cases with Small Supernumerary Marker Chromosomes

2013 ◽  
Vol 139 (3) ◽  
pp. 158-163 ◽  
Author(s):  
T. Liehr ◽  
E. Klein ◽  
K. Mrasek ◽  
N. Kosyakova ◽  
R.S. Guilherme ◽  
...  
Keyword(s):  
Somatic Mosaicism ◽  
Clinical Impact ◽  
Marker Chromosomes ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

scholarly journals Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives

2020 ◽  
Vol 37 (7) ◽  
pp. 1729-1736
Author(s):  
Wafa Slimani ◽  
Afef Jelloul ◽  
Ahmed Al-Rikabi ◽  
Amira Sallem ◽  
Yosra Hasni ◽  
...  
Keyword(s):  
Male Infertility ◽  
Review Of The Literature ◽  
Marker Chromosomes ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes
Sign in / Sign up

Export Citation Format

Share Document