De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Shirley Lo-A-Njoe; Lars T. van der Veken; Clementien Vermont; Louise Rafael-Croes; Vincent Keizer; Ron Hochstenbach; Nine Knoers; Mieke M. van Haelst

doi:https://doi.org/10.1155/2016/2861653

De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

Shirley Lo-A-Njoe, Lars T. van der Veken, Clementien Vermont, Louise Rafael-Croes, Vincent Keizer, Ron Hochstenbach, Nine Knoers, Mieke M. van Haelst

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

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

Original language	English
Pages (from-to)	2861653
Journal	Case reports in genetics
Volume	2016
DOIs	https://doi.org/10.1155/2016/2861653
Publication status	Published - 2016

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https://doi.org/10.1155/2016/2861653

Cite this

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title = "De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies",

abstract = "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",

author = "Shirley Lo-A-Njoe and {van der Veken}, {Lars T.} and Clementien Vermont and Louise Rafael-Croes and Vincent Keizer and Ron Hochstenbach and Nine Knoers and {van Haelst}, {Mieke M.}",

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T1 - De Novo Trisomy 1q10q23.3 Mosaicism Causes Microcephaly, Severe Developmental Delay, and Facial Dysmorphic Features but No Cardiac Anomalies

AU - Lo-A-Njoe, Shirley

AU - van der Veken, Lars T.

AU - Vermont, Clementien

AU - Rafael-Croes, Louise

AU - Keizer, Vincent

AU - Hochstenbach, Ron

AU - Knoers, Nine

AU - van Haelst, Mieke M.

PY - 2016

Y1 - 2016

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AB - 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

U2 - https://doi.org/10.1155/2016/2861653

DO - https://doi.org/10.1155/2016/2861653

M3 - Article

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SN - 2090-6544

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JO - Case reports in genetics

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