De novo small supernumerary marker chromosomes detected on 143 000 consecutive prenatal diagnoses: chromosomal distribution, frequencies, and characterization combining molecular cytogenetics approaches

2014 ◽  
Vol 34 (5) ◽  
pp. 460-468 ◽  
Author(s):  
Francesca Malvestiti ◽  
Simona De Toffol ◽  
Beatrice Grimi ◽  
Sara Chinetti ◽  
Livia Marcato ◽  
...  
Keyword(s):  
De Novo ◽  
Molecular Cytogenetics ◽  
Chromosomal Distribution ◽  
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 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.

scholarly journals Centromeric association of small supernumerary marker chromosomes with their sister-chromosomes detected by three dimensional molecular cytogenetics

2012 ◽  
Vol 5 (1) ◽  
pp. 15 ◽  
Author(s):  
Elisabeth Klein ◽  
Marina Manvelyan ◽  
Isabella Simonyan ◽  
Ahmed B Hamid ◽  
Roberta Guilherme ◽  
...  
Keyword(s):  
Three Dimensional ◽  
Molecular Cytogenetics ◽  
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 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.

scholarly journals De Novo Small Supernumerary Marker Chromosomes Arising From Partial Trisomy Rescue

2020 ◽  
Vol 11 ◽  
Author(s):  
Keiko Matsubara ◽  
Kaede Yanagida ◽  
Toshiro Nagai ◽  
Masayo Kagami ◽  
Maki Fukami
Keyword(s):  
De Novo ◽  
Partial Trisomy ◽  
Marker Chromosomes ◽  
Small Supernumerary Marker Chromosomes ◽  
Trisomy Rescue ◽  
Supernumerary Marker Chromosomes

scholarly journals Small supernumerary marker chromosomes derived from chromosome 14 and/or 22

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Thomas Liehr ◽  
Heather E. Williams ◽  
Monika Ziegler ◽  
Stefanie Kankel ◽  
Niklas Padutsch ◽  
...  
Keyword(s):  
Uniparental Disomy ◽  
Molecular Cytogenetics ◽  
Chromosome 22 ◽  
Human Chromosomes ◽  
Chromosome 14 ◽  
Single Chromosome ◽  
Routine Diagnostics ◽  
Marker Chromosomes ◽  
Small Supernumerary Marker Chromosomes ◽  
Supernumerary Marker Chromosomes

AbstractSmall supernumerary marker chromosomes (sSMCs) are additional derivative chromosomes present in an otherwise numerically and structurally normal karyotype. They may derive from each of the 24 human chromosomes, and most contain a normal centromeric region with an alphoid sequence from a single chromosome. The majority of human chromosomes have a unique centromeric DNA-sequence enabling their indubitable characterization. However, chromosomes 14 and 22 share a common centromeric sequence D14/22Z1, and sSMCs with this DNA-stretch can derive from either chromosome. Euchromatin-carrying sSMCs(14 or 22) may be further characterized by molecular cytogenetics. However, in most diagnostic laboratories, heterochromatic sSMCs cannot be differentiated between chromosomes 14 or 22 derivation and are often reported as der(14 or 22). Still, heterochromatic sSMC(14 or 22) can be distinguished from each other using the D22Z4 probe (non-commercial) localized to 22p11.2. Herein, 355 sSMC(14 or 22) analyzed in the authors’ laboratory during the last ~ 20 years are summarized to address the questions: (1) What are the true frequencies of chromosome 14- and chromosome 22- derived sSMCs within D14/22Z1-positive cases? (2) Does sub-characterization of sSMC(14) and sSMC(22) make a difference in routine diagnostics? These questions could be answered as follows: (ad 1) within the studied group of sSMCs ~ 40% are derived from chromosome 14 and ~ 60% from chromosome 22; (ad 2) the knowledge on exact sSMC origin can help to save costs in routine diagnostics; i.e. in a clinically abnormal person with sSMC(14) a test for uniparental disomy is indicated, which is not necessary if a chromosome 22 origin for the sSMC was determined.

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