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

PLoS ONE

Volumn 8, Issue 10, 2013, Pages

  Gu, Heng ^a,h   Jiang, Jian hui ^b   Li, Jian ying ^c   Zhang, Ya nan ^d   Dong, Xing sheng ^e   Huang, Yang yu ^f   Son, Xin ming ^a   Lu, Xinyan ^g,i   Chen, Zheng ^a  

^a SUN YAT SEN UNIVERSITY   (China)

^b GUANGZHOU WOMEN AND CHILDREN S MEDICAL CENTER   (China)

^c SUN YAT SEN UNIVERSITY   (China)

^d THE THIRD AFFILIATED HOSPITAL OF SUN YAT SEN UNIVERSITY   (China)

^e Boai Hospital   (China)

^f Chaozhou Women and Children Hospital   (China)

^g UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^h Family Planning Research Institute of Guangdong   (China)

ⁱ BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTISM; BODY DYSMORPHIC DISORDER; CAT CRY SYNDROME; CHILD; CHROMOSOME 5P; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; CHROMOSOME REARRANGEMENT; CHROMOTHRIPSIS; COPY NUMBER VARIATION; DEVELOPMENTAL DISORDER; FAMILIAL DISEASE; FEMALE; HAPLOTYPE; HUMAN; MALE; PHENOTYPIC VARIATION; PRESCHOOL CHILD; SEQUENCE ANALYSIS;

CHILD; CHILD, PRESCHOOL; CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 5; CRI-DU-CHAT SYNDROME; FEMALE; HUMANS; MALE; MICROSATELLITE REPEATS; MOTHERS; PEDIGREE; PREGNANCY;

EID: 84885445216     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0076985     Document Type: Article

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