A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.
about
5p deletions: Current knowledge and future directions.Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndromeCri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.A systematic review of the oral and craniofacial manifestations of cri du chat syndrome.Catastrophic cellular events leading to complex chromosomal rearrangements in the germline.A germline chromothripsis event stably segregating in 11 individuals through three generations.Stable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a likely pathogenic variant
P2860
Q26800129-93D60BFD-E143-4CE2-B9C5-15594FD84315Q36383742-9795DECC-1697-4BE7-B8D7-30A55AA33BA9Q36819384-5F361236-9688-49E1-8CAF-2C0E6EFCB60CQ38604798-89E6A472-282A-4B69-8C47-BA64F8FF77B9Q39020501-F5B52B16-1272-461D-9528-B0F7DF7D8AF1Q48141165-665675BC-A0C5-4067-B50B-84E3896541B6Q58699052-77A5BE52-B0A3-43BA-92D9-1023003D95A8
P2860
A familial Cri-du-Chat/5p deletion syndrome resulted from rare maternal complex chromosomal rearrangements (CCRs) and/or possible chromosome 5p chromothripsis.
description
2013 nî lūn-bûn
@nan
2013 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
A familial Cri-du-Chat/5p dele ...... chromosome 5p chromothripsis.
@ast
A familial Cri-du-Chat/5p dele ...... chromosome 5p chromothripsis.
@en
type
label
A familial Cri-du-Chat/5p dele ...... chromosome 5p chromothripsis.
@ast
A familial Cri-du-Chat/5p dele ...... chromosome 5p chromothripsis.
@en
prefLabel
A familial Cri-du-Chat/5p dele ...... chromosome 5p chromothripsis.
@ast
A familial Cri-du-Chat/5p dele ...... chromosome 5p chromothripsis.
@en
P2093
P2860
P1433
P1476
A familial Cri-du-Chat/5p dele ...... chromosome 5p chromothripsis.
@en
P2093
Jian-hui Jiang
Jian-ying Li
Xin-ming Son
Xing-sheng Dong
Ya-nan Zhang
Yang-yu Huang
Zheng Chen
P2860
P304
P356
10.1371/JOURNAL.PONE.0076985
P407
P577
2013-10-15T00:00:00Z