A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.

A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.

Cri-du-Chat syndrome (MIM 123450) is a chromosomal syndrome characterized by the characteristic features, including cat-like cry and chromosome 5p deletions. We report a family with five individuals showing chromosomal rearrangements involving 5p, resulting from rare maternal complex chromosomal rea...

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Bibliographic Details
Main Authors: Heng Gu, Jian-hui Jiang, Jian-ying Li, Ya-nan Zhang, Xing-sheng Dong, Yang-yu Huang, Xin-ming Son, Xinyan Lu, Zheng Chen
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2013-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3797133?pdf=render

Internet

http://europepmc.org/articles/PMC3797133?pdf=render

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