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Prenatal Diagnosis and Molecular Cytogenetic Characterization of Xp22.32p22.31 microduplication in a Chinese family
Affiliations- Department of Obstetrics, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, PR China
- Department of Gastroenterology, Peking University Shenzhen Hospital, Shenzhen, Guangdong, PR China
- Department of of child Health Care, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, PR China
- Department of Stomatology, Maternal and Child Health Hospital of Hubei Province, Wuhan, Hubei, PR China
open access
Abstract
Objectives: To explore the relationship between Xp22.32p22.31 microduplication and mental retardation identifiable by chromosomal G-banding and chromosomal microarray analysis (CMA).
Material and methods: Chromosomal G-banding, CMA, and physical and mental examinations were performed on four members of a Chinese family.
Results: The mother and one baby had the same microduplication (arr[GRCh37] Xp22.32p22.31(5970505-6075215)x2), and the baby had mental retardation.
Conclusions: Xp22.32p22.31 microduplication in males could cause mental retardation. Combination of NIPT, prenatal ultrasound, chromosomal G-banding and CMA has high accuracy in risk assessment for prenatal diagnosis.
Abstract
Objectives: To explore the relationship between Xp22.32p22.31 microduplication and mental retardation identifiable by chromosomal G-banding and chromosomal microarray analysis (CMA).
Material and methods: Chromosomal G-banding, CMA, and physical and mental examinations were performed on four members of a Chinese family.
Results: The mother and one baby had the same microduplication (arr[GRCh37] Xp22.32p22.31(5970505-6075215)x2), and the baby had mental retardation.
Conclusions: Xp22.32p22.31 microduplication in males could cause mental retardation. Combination of NIPT, prenatal ultrasound, chromosomal G-banding and CMA has high accuracy in risk assessment for prenatal diagnosis.
Keywords
prenatal diagnosis; Xp22.32p22.31 microduplication; chromosomal microarray analysis; mental retardation
About this articleTitle
Prenatal Diagnosis and Molecular Cytogenetic Characterization of Xp22.32p22.31 microduplication in a Chinese family
Journal
Issue
Article type
Research paper
Published online
2022-03-18
Page views
322
Article views/downloads
206
DOI
10.5603/GP.a2021.0225
Pubmed
Keywords
prenatal diagnosis
Xp22.32p22.31 microduplication
chromosomal microarray analysis
mental retardation
Authors
Weixin Cui
Xi Li
Yan Jin
Juan Zhang
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