Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizur...

Full description

Bibliographic Details
Main Authors:	Sánchez, Javier, García-Díaz, Lutgardo, Chinchón, David, Antiñolo, Guillermo
Format:	Online
Language:	English
Published:	Hindawi Publishing Corporation 2012
Online Access:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501810/

id	pubmed-3501810
recordtype	oai_dc
spelling	pubmed-35018102012-11-29 Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14 Sánchez, Javier García-Díaz, Lutgardo Chinchón, David Antiñolo, Guillermo Case Report Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14), and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings. Hindawi Publishing Corporation 2012 2012-11-05 /pmc/articles/PMC3501810/ /pubmed/23198189 http://dx.doi.org/10.1155/2012/794075 Text en Copyright © 2012 Javier Sánchez et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
repository_type	Open Access Journal
institution_category	Foreign Institution
institution	US National Center for Biotechnology Information
building	NCBI PubMed
collection	Online Access
language	English
format	Online
author	Sánchez, Javier García-Díaz, Lutgardo Chinchón, David Antiñolo, Guillermo
spellingShingle	Sánchez, Javier García-Díaz, Lutgardo Chinchón, David Antiñolo, Guillermo Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
author_facet	Sánchez, Javier García-Díaz, Lutgardo Chinchón, David Antiñolo, Guillermo
author_sort	Sánchez, Javier
title	Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
title_short	Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
title_full	Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
title_fullStr	Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
title_full_unstemmed	Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14
title_sort	prenatal diagnosis of a fetus with congenital heart defect and ring chromosome 14
description	Monosomy of chromosome 14 has been reported in only a few prenatal cases. Generally, this monosomy is associated with a mosaicism of ring chromosome 14. Ring chromosome 14 is a rare cytogenetic entity with clinical characteristics that include growth retardation, facial dysmorphia, hypotonia, seizures, and retinitis pigmentosa. Given that the majority of symptoms appear postnatally, few cases have been reported of prenatal diagnosis of mosaicism monosomy/ring chromosome 14. We describe the prenatal diagnosis of a case of chromosomal mosaicism, a cell line with ring chromosome 14, r(14), and a second cell line with monosomy 14, in a fetus with aortic coarctation and chamber asymmetry. This is the first case of a prenatal diagnosis associating mosaicism with ring chromosome 14, monosomy 14, and fetal cardiopathy. We identified the exact breakpoint in ring chromosome 14 in IGH locus, which may provide further insight into the mode of ring formation as well as prenatal findings.
publisher	Hindawi Publishing Corporation
publishDate	2012
url	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3501810/
_version_	1611933691368439808

Prenatal Diagnosis of a Fetus with Congenital Heart Defect and Ring Chromosome 14

Similar Items