Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study
Objectives: To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMCs) and conduct precise genetic counseling, we retrospectively searched and reviewed de novo sSMCs cases detected during prenatal diagnosis at The First Affiliated Hospital of Zhengzhou University....
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| Format: | Article |
| Language: | English |
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Elsevier
2023-01-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455922003485 |
| _version_ | 1797938762081107968 |
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| author | Shuang Hu Xiangdong Kong |
| author_facet | Shuang Hu Xiangdong Kong |
| author_sort | Shuang Hu |
| collection | DOAJ |
| description | Objectives: To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMCs) and conduct precise genetic counseling, we retrospectively searched and reviewed de novo sSMCs cases detected during prenatal diagnosis at The First Affiliated Hospital of Zhengzhou University. Materials and methods: 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 sSMCs 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 sSMCs 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. |
| first_indexed | 2024-04-10T19:05:51Z |
| format | Article |
| id | doaj.art-a2975b52885343eb857a4716cbcbe21f |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-04-10T19:05:51Z |
| publishDate | 2023-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-a2975b52885343eb857a4716cbcbe21f2023-01-31T04:08:21ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592023-01-0162194100Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective studyShuang Hu0Xiangdong Kong1The First Affiliated Hospital of Zhengzhou University, Genetic and Prenatal Diagnosis Center, Zhengzhou, Henan, 450052, ChinaCorresponding author. The First Affiliated Hospital of Zhengzhou University, Genetic and Prenatal Diagnosis Center, No.1 Jianshe East Road, Zhengzhou, Henan, 450052, China.; The First Affiliated Hospital of Zhengzhou University, Genetic and Prenatal Diagnosis Center, Zhengzhou, Henan, 450052, ChinaObjectives: To define the genotype-phenotype correlation of small supernumerary marker chromosomes (sSMCs) and conduct precise genetic counseling, we retrospectively searched and reviewed de novo sSMCs cases detected during prenatal diagnosis at The First Affiliated Hospital of Zhengzhou University. Materials and methods: 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 sSMCs 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 sSMCs 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.http://www.sciencedirect.com/science/article/pii/S1028455922003485Amniotic fluidSmall supernumerary marker chromosomeSNP arrayCNV-seqMolecular cytogeneticPrenatal diagnosis |
| spellingShingle | Shuang Hu Xiangdong Kong Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study Taiwanese Journal of Obstetrics & Gynecology Amniotic fluid Small supernumerary marker chromosome SNP array CNV-seq Molecular cytogenetic Prenatal diagnosis |
| title | Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study |
| title_full | Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study |
| title_fullStr | Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study |
| title_full_unstemmed | Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study |
| title_short | Molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis, a retrospective study |
| title_sort | molecular delineation of de novo small supernumerary marker chromosomes in prenatal diagnosis a retrospective study |
| topic | Amniotic fluid Small supernumerary marker chromosome SNP array CNV-seq Molecular cytogenetic Prenatal diagnosis |
| url | http://www.sciencedirect.com/science/article/pii/S1028455922003485 |
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