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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...

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Autores principales: Lo-A-Njoe, Shirley, van der Veken, Lars T., Vermont, Clementien, Rafael-Croes, Louise, Keizer, Vincent, Hochstenbach, Ron, Knoers, Nine, van Haelst, Mieke M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2016
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.
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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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