A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis-Reference-Cited by-同舟云学术

A Familial Cri-du-Chat/5p Deletion Syndrome Resulted from Rare Maternal Complex Chromosomal Rearrangements (CCRs) and/or Possible Chromosome 5p Chromothripsis

Published:2013-10-15 Issue:10 Volume:8 Page:e76985
ISSN:1932-6203
Container-title:PLoS ONE
language:en
Short-container-title:PLoS ONE

Author:

Gu Heng,Jiang Jian-hui,Li Jian-ying,Zhang Ya-nan,Dong Xing-sheng,Huang Yang-yu,Son Xin-ming,Lu Xinyan,Chen Zheng

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference35 articles.

1. Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis;XY Lu;Pediatrics,2008

2. Implications of copy number variation in people with chromosomal abnormalities: potential for greater variation in copy number state may contribute to variability of phenotype;AJ de Smith;Hugo J,2010

3. [3 CASES OF PARTIAL DELETION OF THE SHORT ARM OF A 5 CHROMOSOME];J Lejeune;C R Hebd Seances Acad Sci,1963

4. Cri du chat syndrome: a critical review;A Rodriguez-Caballero;Med Oral Patol Oral Cir Bucal,2010

5. Cri du Chat syndrome;MP Cerruti;Orphanet J Rare Dis 1,2006

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