Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report

Abstract Background Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition, with only five cases of paternal UPD(3) reported. Case presentation Here...

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Autores principales:	Xiufen Bu, Xu Li, Shihao Zhou, Liangcheng Shi, Xuanyu Jiang, Can Peng, Hongyu Li, Jun He
Formato:	article
Lenguaje:	EN
Publicado:	BMC 2021
Materias:	Uniparental isodisomy 3 Imprinted genes Prenatal diagnosis SNP array Genetics QH426-470
Acceso en línea:	https://doaj.org/article/160a431cc5cf43b6baabb5895448eab3
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spelling	oai:doaj.org-article:160a431cc5cf43b6baabb5895448eab32021-11-07T12:05:42ZPrenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report10.1186/s13039-021-00569-81755-8166https://doaj.org/article/160a431cc5cf43b6baabb5895448eab32021-11-01T00:00:00Zhttps://doi.org/10.1186/s13039-021-00569-8https://doaj.org/toc/1755-8166Abstract Background Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition, with only five cases of paternal UPD(3) reported. Case presentation Here, we report a prenatal case that is only the second confirmed paternal UPD(3) reported with no apparent disease phenotype. The fetus had a normal karyotype and normal ultrasound features throughout gestation. Copy neutral regions of homozygosity on chromosome 3 were identified by single nucleotide polymorphism (SNP) array. Subsequent SNP array data of parent–child trios showed that the fetus carried complete paternal uniparental isodisomy (isoUPD) of chromosome 3. The parents decided to continue with the pregnancy after genetic counseling, and the neonate had normal physical findings at birth and showed normal development after 1.5 years. Conclusions These findings provided further evidence to confirm that there were no important imprinted genes on paternal chromosome 3 that caused serious diseases and a reference for the prenatal diagnosis and genetic counseling of UPD(3) in the future.Xiufen BuXu LiShihao ZhouLiangcheng ShiXuanyu JiangCan PengHongyu LiJun HeBMCarticleUniparental isodisomy 3Imprinted genesPrenatal diagnosisSNP arrayGeneticsQH426-470ENMolecular Cytogenetics, Vol 14, Iss 1, Pp 1-5 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Uniparental isodisomy 3 Imprinted genes Prenatal diagnosis SNP array Genetics QH426-470
spellingShingle	Uniparental isodisomy 3 Imprinted genes Prenatal diagnosis SNP array Genetics QH426-470 Xiufen Bu Xu Li Shihao Zhou Liangcheng Shi Xuanyu Jiang Can Peng Hongyu Li Jun He Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
description	Abstract Background Uniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the other. Paternal-origin UPD of chromosome 3 is a very rare condition, with only five cases of paternal UPD(3) reported. Case presentation Here, we report a prenatal case that is only the second confirmed paternal UPD(3) reported with no apparent disease phenotype. The fetus had a normal karyotype and normal ultrasound features throughout gestation. Copy neutral regions of homozygosity on chromosome 3 were identified by single nucleotide polymorphism (SNP) array. Subsequent SNP array data of parent–child trios showed that the fetus carried complete paternal uniparental isodisomy (isoUPD) of chromosome 3. The parents decided to continue with the pregnancy after genetic counseling, and the neonate had normal physical findings at birth and showed normal development after 1.5 years. Conclusions These findings provided further evidence to confirm that there were no important imprinted genes on paternal chromosome 3 that caused serious diseases and a reference for the prenatal diagnosis and genetic counseling of UPD(3) in the future.
format	article
author	Xiufen Bu Xu Li Shihao Zhou Liangcheng Shi Xuanyu Jiang Can Peng Hongyu Li Jun He
author_facet	Xiufen Bu Xu Li Shihao Zhou Liangcheng Shi Xuanyu Jiang Can Peng Hongyu Li Jun He
author_sort	Xiufen Bu
title	Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
title_short	Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
title_full	Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
title_fullStr	Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
title_full_unstemmed	Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
title_sort	prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
publisher	BMC
publishDate	2021
url	https://doaj.org/article/160a431cc5cf43b6baabb5895448eab3
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Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report

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