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Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation
Copy number variations (CNVs) at the chromosomal 1q21.1 region represent a group of hot-spot recurrent rearrangements in human genome, which have been detected in hundreds of patients with variable clinical manifestations. Yet, report of such CNVs in prenatal scenario was relatively scattered. In th...
Autores principales: | , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241571/ https://www.ncbi.nlm.nih.gov/pubmed/37284664 http://dx.doi.org/10.1155/2022/5487452 |
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author | Wen, Xiaohui Xing, Huanxia Qi, Keyan Wang, Hao Li, Xiaojun Zhu, Jianjiang Chen, Wenqi Cui, Limin Zhang, Jing Qi, Hong |
author_facet | Wen, Xiaohui Xing, Huanxia Qi, Keyan Wang, Hao Li, Xiaojun Zhu, Jianjiang Chen, Wenqi Cui, Limin Zhang, Jing Qi, Hong |
author_sort | Wen, Xiaohui |
collection | PubMed |
description | Copy number variations (CNVs) at the chromosomal 1q21.1 region represent a group of hot-spot recurrent rearrangements in human genome, which have been detected in hundreds of patients with variable clinical manifestations. Yet, report of such CNVs in prenatal scenario was relatively scattered. In this study, 17 prenatal cases involving the 1q21.1 microdeletion or duplication were recruited. The clinical survey and imaging examination were performed; and genetic detection with karyotyping and CNV analysis using chromosomal microarray (CMA) or CNVseq were subsequently carried out. These cases were all positive with 1q21.1 CNV, yet presented with exceedingly various clinical and utrasonographic indications. Among them, 12 pregnancies carried 1q21.1 deletions, while the other 5 carried 1q21.1 duplications, all of which were within the previously defined breaking point (BP) regions. According to the verification results, 9 CNVs were de novo, 7 were familial, and the other 1 was not certain. We summarized the clinical information of these cases, and the size and distribution of CNVs, and attempted to analyze the association between these two aspects. The findings in our study may provide important basis for the prenatal diagnosis and genetic counseling on such conditions in the future. |
format | Online Article Text |
id | pubmed-10241571 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
spelling | pubmed-102415712023-06-06 Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation Wen, Xiaohui Xing, Huanxia Qi, Keyan Wang, Hao Li, Xiaojun Zhu, Jianjiang Chen, Wenqi Cui, Limin Zhang, Jing Qi, Hong Dis Markers Research Article Copy number variations (CNVs) at the chromosomal 1q21.1 region represent a group of hot-spot recurrent rearrangements in human genome, which have been detected in hundreds of patients with variable clinical manifestations. Yet, report of such CNVs in prenatal scenario was relatively scattered. In this study, 17 prenatal cases involving the 1q21.1 microdeletion or duplication were recruited. The clinical survey and imaging examination were performed; and genetic detection with karyotyping and CNV analysis using chromosomal microarray (CMA) or CNVseq were subsequently carried out. These cases were all positive with 1q21.1 CNV, yet presented with exceedingly various clinical and utrasonographic indications. Among them, 12 pregnancies carried 1q21.1 deletions, while the other 5 carried 1q21.1 duplications, all of which were within the previously defined breaking point (BP) regions. According to the verification results, 9 CNVs were de novo, 7 were familial, and the other 1 was not certain. We summarized the clinical information of these cases, and the size and distribution of CNVs, and attempted to analyze the association between these two aspects. The findings in our study may provide important basis for the prenatal diagnosis and genetic counseling on such conditions in the future. Hindawi 2022-04-27 /pmc/articles/PMC10241571/ /pubmed/37284664 http://dx.doi.org/10.1155/2022/5487452 Text en Copyright © 2022 Xiaohui Wen et al. https://creativecommons.org/licenses/by/4.0/This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Research Article Wen, Xiaohui Xing, Huanxia Qi, Keyan Wang, Hao Li, Xiaojun Zhu, Jianjiang Chen, Wenqi Cui, Limin Zhang, Jing Qi, Hong Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation |
title | Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation |
title_full | Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation |
title_fullStr | Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation |
title_full_unstemmed | Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation |
title_short | Analysis of 17 Prenatal Cases with the Chromosomal 1q21.1 Copy Number Variation |
title_sort | analysis of 17 prenatal cases with the chromosomal 1q21.1 copy number variation |
topic | Research Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10241571/ https://www.ncbi.nlm.nih.gov/pubmed/37284664 http://dx.doi.org/10.1155/2022/5487452 |
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