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Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature

Chimerism is a very rare genetic finding in human. Most reported cases have a chi 46,XX/46,XY karyotype. Only three non-twin cases carrying both trisomy 21 and a normal karyotype have been reported, including two cases with a chi 47,XY,+21/46,XX karyotype and a case with a chi 47,XX,+21/46,XY karyot...

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Autores principales: Charalsawadi, Chariyawan, Jaruratanasirikul, Somchit, Hnoonual, Areerat, Chantarapong, Aussanai, Sangmanee, Pornsiri, Trongnit, Sasipong, Jinawath, Natini, Limprasert, Pornprot
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
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Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709885/
https://www.ncbi.nlm.nih.gov/pubmed/36468027
http://dx.doi.org/10.3389/fgene.2022.802362
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author Charalsawadi, Chariyawan
Jaruratanasirikul, Somchit
Hnoonual, Areerat
Chantarapong, Aussanai
Sangmanee, Pornsiri
Trongnit, Sasipong
Jinawath, Natini
Limprasert, Pornprot
author_facet Charalsawadi, Chariyawan
Jaruratanasirikul, Somchit
Hnoonual, Areerat
Chantarapong, Aussanai
Sangmanee, Pornsiri
Trongnit, Sasipong
Jinawath, Natini
Limprasert, Pornprot
author_sort Charalsawadi, Chariyawan
collection PubMed
description Chimerism is a very rare genetic finding in human. Most reported cases have a chi 46,XX/46,XY karyotype. Only three non-twin cases carrying both trisomy 21 and a normal karyotype have been reported, including two cases with a chi 47,XY,+21/46,XX karyotype and a case with a chi 47,XX,+21/46,XY karyotype. Herein we describe an additional case with a chi 47,XY,+21/46,XX karyotype. For the case, a physical examination at the age of 1 year revealed ambiguous genitalia with no features of Down syndrome or other malformations. Growth and developmental milestones were within normal ranges. We performed short tandem repeat (STR) and single nucleotide polymorphism (SNP) microarray analyses to attempt to identify the mechanism underlying the chimerism in this patient and the origin of the extra chromosome 21. Cytogenetic analyses of the patient’s peripheral blood revealed approximately 17% of a 47,XY,+21 lineage by G-banding karyotype analysis, 13%–17% by FISH analyses of uncultured peripheral blood, and 10%–15% by SNP microarray analysis. Four years later, the percentage of trisomy 21 cells had decreased to approximately 6%. SNP microarray and STR analyses revealed a single maternal and double paternal genetic contribution to the patient for the majority of the markers, including the chromosome 21 markers. The extra chromosome 21 was paternally derived and meiosis I nondisjunction likely occurred during spermatogenesis. The mechanisms underlying chimera in our case was likely fertilization two spermatozoa, one with an ovum and the other with the second polar body.
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spelling pubmed-97098852022-12-01 Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature Charalsawadi, Chariyawan Jaruratanasirikul, Somchit Hnoonual, Areerat Chantarapong, Aussanai Sangmanee, Pornsiri Trongnit, Sasipong Jinawath, Natini Limprasert, Pornprot Front Genet Genetics Chimerism is a very rare genetic finding in human. Most reported cases have a chi 46,XX/46,XY karyotype. Only three non-twin cases carrying both trisomy 21 and a normal karyotype have been reported, including two cases with a chi 47,XY,+21/46,XX karyotype and a case with a chi 47,XX,+21/46,XY karyotype. Herein we describe an additional case with a chi 47,XY,+21/46,XX karyotype. For the case, a physical examination at the age of 1 year revealed ambiguous genitalia with no features of Down syndrome or other malformations. Growth and developmental milestones were within normal ranges. We performed short tandem repeat (STR) and single nucleotide polymorphism (SNP) microarray analyses to attempt to identify the mechanism underlying the chimerism in this patient and the origin of the extra chromosome 21. Cytogenetic analyses of the patient’s peripheral blood revealed approximately 17% of a 47,XY,+21 lineage by G-banding karyotype analysis, 13%–17% by FISH analyses of uncultured peripheral blood, and 10%–15% by SNP microarray analysis. Four years later, the percentage of trisomy 21 cells had decreased to approximately 6%. SNP microarray and STR analyses revealed a single maternal and double paternal genetic contribution to the patient for the majority of the markers, including the chromosome 21 markers. The extra chromosome 21 was paternally derived and meiosis I nondisjunction likely occurred during spermatogenesis. The mechanisms underlying chimera in our case was likely fertilization two spermatozoa, one with an ovum and the other with the second polar body. Frontiers Media S.A. 2022-11-11 /pmc/articles/PMC9709885/ /pubmed/36468027 http://dx.doi.org/10.3389/fgene.2022.802362 Text en Copyright © 2022 Charalsawadi, Jaruratanasirikul, Hnoonual, Chantarapong, Sangmanee, Trongnit, Jinawath and Limprasert. https://creativecommons.org/licenses/by/4.0/This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Charalsawadi, Chariyawan
Jaruratanasirikul, Somchit
Hnoonual, Areerat
Chantarapong, Aussanai
Sangmanee, Pornsiri
Trongnit, Sasipong
Jinawath, Natini
Limprasert, Pornprot
Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature
title Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature
title_full Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature
title_fullStr Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature
title_full_unstemmed Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature
title_short Case report: Molecular analysis of a 47,XY,+21/46,XX chimera using SNP microarray and review of literature
title_sort case report: molecular analysis of a 47,xy,+21/46,xx chimera using snp microarray and review of literature
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9709885/
https://www.ncbi.nlm.nih.gov/pubmed/36468027
http://dx.doi.org/10.3389/fgene.2022.802362
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