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Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2
Copy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Here, we report the prenatal diagnosis and g...
Autores principales: | , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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SAGE Publications
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9274417/ https://www.ncbi.nlm.nih.gov/pubmed/35808818 http://dx.doi.org/10.1177/03000605221109400 |
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author | Li, Meihua Liu, Linlin Wu, Yijun Guan, Jian |
author_facet | Li, Meihua Liu, Linlin Wu, Yijun Guan, Jian |
author_sort | Li, Meihua |
collection | PubMed |
description | Copy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Here, we report the prenatal diagnosis and genetic counseling of a maternally inherited 16p11.2 microdeletion. In this family, the mother and fetus both have a normal phenotype and the same microdeletion. Following the use of molecular genetic techniques, including array-based methods, the number of reported cases has rapidly increased. The combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis (CMA), and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications. |
format | Online Article Text |
id | pubmed-9274417 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | SAGE Publications |
record_format | MEDLINE/PubMed |
spelling | pubmed-92744172022-07-13 Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2 Li, Meihua Liu, Linlin Wu, Yijun Guan, Jian J Int Med Res Retrospective Clinical Research Report Copy number variations (CNVs) in chromosome 16p11.2 (deletions and duplications) are not rare. 16p11.2 microdeletion is among the most commonly known genetic etiologies of autism spectrum disorder, overweightness, and related neurodevelopmental disorders. Here, we report the prenatal diagnosis and genetic counseling of a maternally inherited 16p11.2 microdeletion. In this family, the mother and fetus both have a normal phenotype and the same microdeletion. Following the use of molecular genetic techniques, including array-based methods, the number of reported cases has rapidly increased. The combination of prenatal ultrasound, karyotype analysis, chromosomal microarray analysis (CMA), and genetic counseling is helpful for the prenatal diagnosis of chromosomal microdeletions/microduplications. SAGE Publications 2022-07-08 /pmc/articles/PMC9274417/ /pubmed/35808818 http://dx.doi.org/10.1177/03000605221109400 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by-nc/4.0/Creative Commons Non Commercial CC BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 4.0 License (https://creativecommons.org/licenses/by-nc/4.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided the original work is attributed as specified on the SAGE and Open Access pages (https://us.sagepub.com/en-us/nam/open-access-at-sage). |
spellingShingle | Retrospective Clinical Research Report Li, Meihua Liu, Linlin Wu, Yijun Guan, Jian Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of chromosome 16p11.2 |
title | Prenatal diagnosis and molecular cytogenetic characterization of an
inherited microdeletion of chromosome 16p11.2 |
title_full | Prenatal diagnosis and molecular cytogenetic characterization of an
inherited microdeletion of chromosome 16p11.2 |
title_fullStr | Prenatal diagnosis and molecular cytogenetic characterization of an
inherited microdeletion of chromosome 16p11.2 |
title_full_unstemmed | Prenatal diagnosis and molecular cytogenetic characterization of an
inherited microdeletion of chromosome 16p11.2 |
title_short | Prenatal diagnosis and molecular cytogenetic characterization of an
inherited microdeletion of chromosome 16p11.2 |
title_sort | prenatal diagnosis and molecular cytogenetic characterization of an
inherited microdeletion of chromosome 16p11.2 |
topic | Retrospective Clinical Research Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9274417/ https://www.ncbi.nlm.nih.gov/pubmed/35808818 http://dx.doi.org/10.1177/03000605221109400 |
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