Identification of a cryptic 1p36. 3 microdeletion in a patient with Prader-Willi-like syndrome features

Chinese Journal of Medical Genetics

Volumn 27, Issue 5, 2010, Pages 524-529

  Xu, Fang ^a   Cheng, De Hua ^a   Di, Yu Fen ^a   Tan, Ke ^a   Li, Lu Yun ^a   Lu, Guang Xiu ^a   Tan, Yue Qiu ^a  

^a CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

1p36. 3 microdeletion; Fluorescent in situ hybridization; Multiplex ligation dependent probe amplification; Prader Willi syndrome

Indexed keywords

ARTICLE; CASE REPORT; CHILD; CHROMOSOME 15; CHROMOSOME 1P; FLUORESCENCE IN SITU HYBRIDIZATION; GENE IDENTIFICATION; HUMAN; KARYOTYPING; MENTAL DEFICIENCY; METHYLATION; MONOSOMY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PEDIGREE ANALYSIS; PRADER WILLI SYNDROME; REAL TIME POLYMERASE CHAIN REACTION; TELOMERE;

CHILD; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 1; FEMALE; HUMANS; KARYOTYPING; PRADER-WILLI SYNDROME;

EID: 78049264381     PISSN: 10039406     EISSN: None     Source Type: Journal    
DOI: 10.3760/cma.j.issn.1003-9406.2010.05.011     Document Type: Article

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