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De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies
Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi Publishing Corporation
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752968/ https://www.ncbi.nlm.nih.gov/pubmed/26942023 http://dx.doi.org/10.1155/2016/2861653 |
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author | Lo-A-Njoe, Shirley van der Veken, Lars T. Vermont, Clementien Rafael-Croes, Louise Keizer, Vincent Hochstenbach, Ron Knoers, Nine van Haelst, Mieke M. |
author_facet | Lo-A-Njoe, Shirley van der Veken, Lars T. Vermont, Clementien Rafael-Croes, Louise Keizer, Vincent Hochstenbach, Ron Knoers, Nine van Haelst, Mieke M. |
author_sort | Lo-A-Njoe, Shirley |
collection | PubMed |
description | Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a second case: a girl with a postnatal diagnosis of a de novo pure mosaic trisomy 1q1023.3 who has no urogenital or cardiac anomalies. |
format | Online Article Text |
id | pubmed-4752968 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Hindawi Publishing Corporation |
record_format | MEDLINE/PubMed |
spelling | pubmed-47529682016-03-03 De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies Lo-A-Njoe, Shirley van der Veken, Lars T. Vermont, Clementien Rafael-Croes, Louise Keizer, Vincent Hochstenbach, Ron Knoers, Nine van Haelst, Mieke M. Case Rep Genet Case Report Proximal duplications of chromosome 1q are rare chromosomal abnormalities. Most patients with this condition present with neurological, urogenital, and congenital heart disease and short life expectancy. Mosaicism for trisomy 1q10q23.3 has only been reported once in the literature. Here we discuss a second case: a girl with a postnatal diagnosis of a de novo pure mosaic trisomy 1q1023.3 who has no urogenital or cardiac anomalies. Hindawi Publishing Corporation 2016 2016-01-31 /pmc/articles/PMC4752968/ /pubmed/26942023 http://dx.doi.org/10.1155/2016/2861653 Text en Copyright © 2016 Shirley Lo-A-Njoe et al. https://creativecommons.org/licenses/by/4.0/ 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. |
spellingShingle | Case Report Lo-A-Njoe, Shirley van der Veken, Lars T. Vermont, Clementien Rafael-Croes, Louise Keizer, Vincent Hochstenbach, Ron Knoers, Nine van Haelst, Mieke M. De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies |
title |
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies |
title_full |
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies |
title_fullStr |
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies |
title_full_unstemmed |
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies |
title_short |
De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies |
title_sort | de novo trisomy 1q10q23.3 mosaicism causes microcephaly, severe developmental delay, and facial dysmorphic features but no cardiac anomalies |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4752968/ https://www.ncbi.nlm.nih.gov/pubmed/26942023 http://dx.doi.org/10.1155/2016/2861653 |
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