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Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report
Chromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
De Gruyter
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718637/ https://www.ncbi.nlm.nih.gov/pubmed/33336067 http://dx.doi.org/10.1515/med-2020-0199 |
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author | Chen, Shuang Yu, Yang Zhang, Han Li, Leilei Jiang, Yuting Liu, Ruizhi Zhang, Hongguo |
author_facet | Chen, Shuang Yu, Yang Zhang, Han Li, Leilei Jiang, Yuting Liu, Ruizhi Zhang, Hongguo |
author_sort | Chen, Shuang |
collection | PubMed |
description | Chromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications. |
format | Online Article Text |
id | pubmed-7718637 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | De Gruyter |
record_format | MEDLINE/PubMed |
spelling | pubmed-77186372020-12-16 Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report Chen, Shuang Yu, Yang Zhang, Han Li, Leilei Jiang, Yuting Liu, Ruizhi Zhang, Hongguo Open Med (Wars) Case Report Chromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1–q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1–q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications. De Gruyter 2020-11-09 /pmc/articles/PMC7718637/ /pubmed/33336067 http://dx.doi.org/10.1515/med-2020-0199 Text en © 2020 Shuang Chen et al., published by De Gruyter http://creativecommons.org/licenses/by/4.0 This work is licensed under the Creative Commons Attribution 4.0 International License. |
spellingShingle | Case Report Chen, Shuang Yu, Yang Zhang, Han Li, Leilei Jiang, Yuting Liu, Ruizhi Zhang, Hongguo Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report |
title | Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report |
title_full | Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report |
title_fullStr | Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report |
title_full_unstemmed | Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report |
title_short | Clinical characterization of chromosome 5q21.1–21.3 microduplication: A case report |
title_sort | clinical characterization of chromosome 5q21.1–21.3 microduplication: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7718637/ https://www.ncbi.nlm.nih.gov/pubmed/33336067 http://dx.doi.org/10.1515/med-2020-0199 |
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