Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction

Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes. In this study, we report two cases of UPD for chromosome 2 (UPD2) encountered during prenatal diagnosis. Th...

Descripción completa

Detalles Bibliográficos
Autores principales: Tan, Xuemei, Liu, Bailing, Yan, Tizhen, Wei, Xiaobao, Qin, Yanfeng, Zeng, Dingyuan, Yuan, Dejian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10464012/
https://www.ncbi.nlm.nih.gov/pubmed/37612666
http://dx.doi.org/10.1186/s13039-023-00647-z
_version_ 1785098368011206656
author Tan, Xuemei
Liu, Bailing
Yan, Tizhen
Wei, Xiaobao
Qin, Yanfeng
Zeng, Dingyuan
Yuan, Dejian
author_facet Tan, Xuemei
Liu, Bailing
Yan, Tizhen
Wei, Xiaobao
Qin, Yanfeng
Zeng, Dingyuan
Yuan, Dejian
author_sort Tan, Xuemei
collection PubMed
description Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes. In this study, we report two cases of UPD for chromosome 2 (UPD2) encountered during prenatal diagnosis. The ultrasound findings of the fetuses from two unrelated families showed intrauterine growth restriction. The karyotype analyses were normal. The two fetuses both had complete paternal chromosome 2 uniparental disomy detected by whole-exome sequencing, but their clinical outcomes were significantly different, with fetal arrest in case 1 and birth in case 2. In this report, we analyzed and discussed the phenotypes of the fetuses in these two cases and reviewed the literature on UPD2.
format Online
Article
Text
id pubmed-10464012
institution National Center for Biotechnology Information
language English
publishDate 2023
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-104640122023-08-30 Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction Tan, Xuemei Liu, Bailing Yan, Tizhen Wei, Xiaobao Qin, Yanfeng Zeng, Dingyuan Yuan, Dejian Mol Cytogenet Case Report Uniparental disomy (UPD) is when all or part of the homologous chromosomes are inherited from only one of the two parents. Currently, UPD has been reported to occur for almost all chromosomes. In this study, we report two cases of UPD for chromosome 2 (UPD2) encountered during prenatal diagnosis. The ultrasound findings of the fetuses from two unrelated families showed intrauterine growth restriction. The karyotype analyses were normal. The two fetuses both had complete paternal chromosome 2 uniparental disomy detected by whole-exome sequencing, but their clinical outcomes were significantly different, with fetal arrest in case 1 and birth in case 2. In this report, we analyzed and discussed the phenotypes of the fetuses in these two cases and reviewed the literature on UPD2. BioMed Central 2023-08-23 /pmc/articles/PMC10464012/ /pubmed/37612666 http://dx.doi.org/10.1186/s13039-023-00647-z Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Case Report
Tan, Xuemei
Liu, Bailing
Yan, Tizhen
Wei, Xiaobao
Qin, Yanfeng
Zeng, Dingyuan
Yuan, Dejian
Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
title Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
title_full Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
title_fullStr Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
title_full_unstemmed Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
title_short Prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
title_sort prenatal diagnosis of paternal uniparental disomy for chromosome 2 in two fetuses with intrauterine growth restriction
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10464012/
https://www.ncbi.nlm.nih.gov/pubmed/37612666
http://dx.doi.org/10.1186/s13039-023-00647-z
work_keys_str_mv AT tanxuemei prenataldiagnosisofpaternaluniparentaldisomyforchromosome2intwofetuseswithintrauterinegrowthrestriction
AT liubailing prenataldiagnosisofpaternaluniparentaldisomyforchromosome2intwofetuseswithintrauterinegrowthrestriction
AT yantizhen prenataldiagnosisofpaternaluniparentaldisomyforchromosome2intwofetuseswithintrauterinegrowthrestriction
AT weixiaobao prenataldiagnosisofpaternaluniparentaldisomyforchromosome2intwofetuseswithintrauterinegrowthrestriction
AT qinyanfeng prenataldiagnosisofpaternaluniparentaldisomyforchromosome2intwofetuseswithintrauterinegrowthrestriction
AT zengdingyuan prenataldiagnosisofpaternaluniparentaldisomyforchromosome2intwofetuseswithintrauterinegrowthrestriction
AT yuandejian prenataldiagnosisofpaternaluniparentaldisomyforchromosome2intwofetuseswithintrauterinegrowthrestriction

Ejemplares similares