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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: Gu, Heng, Jiang, Jian-hui, Li, Jian-ying, Zhang, Ya-nan, Dong, Xing-sheng, Huang, Yang-yu, Son, Xin-ming, Lu, Xinyan, Chen, Zheng
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2013
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC3797133/
https://ncbi.nlm.nih.gov/pubmed/24143197
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0076985
Tagiau: Ychwanegu Tag
Dim Tagiau, Byddwch y cyntaf i dagio'r cofnod hwn!

Eitemau Tebyg