open access

Vol 94, No 9 (2023)
Letter to the Editor
Published online: 2022-07-26
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A rare case of uniparental isodisomy of chromosome 7 without phenotypic anomalies

Xiaoli Zeng1, Fang Liu2, Yunfan Xu3, Fangfang Liu4
·
Pubmed: 36861877
·
Ginekol Pol 2023;94(9):752-753.
Affiliations
  1. Department of Maternal Health Care, Shiyan Maternal and Child Health Hospital, Shiyan, Hubei, China
  2. Child Health Section, Shiyan Maternal and Child Health Hospital, Shiyan, Hubei, China
  3. Department of Emergency, Wuhan Jihe Hospital, Wuhan, Hubei, China
  4. Department of Obstetrics, Renmin Hospital, Hubei University of Medicine, Shiyan, Hubei, China

open access

Vol 94, No 9 (2023)
REVIEW PAPERS Gynecology
Published online: 2022-07-26

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.

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Keywords

uniparental disomy; chromosomal microarray analysis; prenatal diagnosis

About this article
Title

A rare case of uniparental isodisomy of chromosome 7 without phenotypic anomalies

Journal

Ginekologia Polska

Issue

Vol 94, No 9 (2023)

Article type

Letter to the Editor

Pages

752-753

Published online

2022-07-26

Page views

494

Article views/downloads

398

DOI

10.5603/GP.a2022.0045

Pubmed

36861877

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

References (6)
  1. Robinson WP. Mechanisms leading to uniparental disomy and their clinical consequences. Bioessays. 2000; 22(5): 452–459, doi: 10.1002/(SICI)1521-1878(200005)22:5<452::AID-BIES7>3.0.CO;2-K.
  2. Eggermann T. Prenatal detection of uniparental disomies (UPD): intended and incidental finding in the era of next generation genomics. Genes (Basel). 2020; 11(12).
  3. Oğlak SC, Bademkıran MH, Obut M. Predictor variables in the success of slow-release dinoprostone used for cervical ripening in intrauterine growth restriction pregnancies. J Gynecol Obstet Hum Reprod. 2020; 49(6): 101739.
  4. Zhang C, Hao S, Zhang Q, et al. Maternal UPD of chromosome 7 in a patient with Silver-Russell syndrome and Pendred syndrome. J Clin Lab Anal. 2020; 34(9): e23407.
  5. Nakamura A, Muroya K, Ogata-Kawata H, et al. A case of paternal uniparental isodisomy for chromosome 7 associated with overgrowth. J Med Genet. 2018; 55(8): 567–570.
  6. Del Gaudio D, Shinawi M, Astbury C, et al. ACMG Laboratory Quality Assurance Committee. Diagnostic testing for uniparental disomy: a points to consider statement from the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2020; 22(7): 1133–1141.

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