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A rare case of uniparental isodisomy of chromosome 7 without phenotypic anomalies
Affiliations- Department of Maternal Health Care, Shiyan Maternal and Child Health Hospital, Shiyan, Hubei, China
- Child Health Section, Shiyan Maternal and Child Health Hospital, Shiyan, Hubei, China
- Department of Emergency, Wuhan Jihe Hospital, Wuhan, Hubei, China
- Department of Obstetrics, Renmin Hospital, Hubei University of Medicine, Shiyan, Hubei, China
open access
Abstract
Uniparental disomy (UPD) is a well-known epigenomic anomaly with both copies of a homologous pair of chromosomes (or part thereof) inherited from the same parent. Unlike numerical or structural chromosomal aberrations, UPD has no effects on chromosome number or structure, thereby escaping cytogenetic detection. However, UPD detection could be performed by the microsatellite analysis or SNP-based chromosomal microarray analysis (CMA) method. UPD may cause diseases in humans by disrupting normal allelic expression of genes undergoing genomic imprinting, homozygosity in case of autosomal recessive traits, or mosaic aneuploidy. Here we present the first case of parental UPD for chromosome 7 with a normal phenotype.
Abstract
Uniparental disomy (UPD) is a well-known epigenomic anomaly with both copies of a homologous pair of chromosomes (or part thereof) inherited from the same parent. Unlike numerical or structural chromosomal aberrations, UPD has no effects on chromosome number or structure, thereby escaping cytogenetic detection. However, UPD detection could be performed by the microsatellite analysis or SNP-based chromosomal microarray analysis (CMA) method. UPD may cause diseases in humans by disrupting normal allelic expression of genes undergoing genomic imprinting, homozygosity in case of autosomal recessive traits, or mosaic aneuploidy. Here we present the first case of parental UPD for chromosome 7 with a normal phenotype.
Keywords
uniparental disomy; chromosomal microarray analysis; prenatal diagnosis
About this articleTitle
A rare case of uniparental isodisomy of chromosome 7 without phenotypic anomalies
Journal
Issue
Article type
Letter to the Editor
Pages
752-753
Published online
2022-07-26
Page views
434
Article views/downloads
324
DOI
Pubmed
Bibliographic record
Ginekol Pol 2023;94(9):752-753.
Keywords
uniparental disomy
chromosomal microarray analysis
prenatal diagnosis
Authors
Xiaoli Zeng
Fang Liu
Yunfan Xu
Fangfang Liu
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