title: Precise microdeletion detection of Prader-Willi Syndrome with array comparative genome hybridization.
abstract: OBJECTIVE
  Prader-Willi Sydrome (PWS) is a human disorder related to genomic imprinting defect on 15q11-13. It is characterized by a series of classic features such as hypotonia, hyperphagia, obesity, osteoporosis, typical facial and body dysmorphosis, hypogonadism, mental and behaviour disorders. Our study was designed to precisely detect the microdeletions, which accounts for 65%-70% of the PWS.
  
  
  METHODS
  Physical and laboratory examinations were firstly performed to diagnose PWS clinically, and to discover novel clinical features. Then the patient was screened with bisulfite-specific sequencing and precisely delineated through high-density array CGH.
  
  
  RESULTS
  With the bisulfite-specific sequencing, the detected CpG island in the PWS critical region was found homozygously hypermethylated. Then with array CGH, a 2.22 Mb type II microdeletion was detected, covering a region from MKRN3, MAGEL2, NDN, PWRN2, PWRN1, C12orf2, SNURF-SNRPN, C/D snoRNAs, to distal of UBE3A.
  
  
  CONCLUSIONS
  Array CGH, after the fast screening of Bisulfite-specific sequencing, is a feasible and precise method to detect microdeletions in PWS patients. A novel feature of metacarpophalangeal joint rigidity was also presented, which is the first time reported in PWS.
authors: Department of Endocrinology and Metabolism, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai Diabetes Institute, Shanghai Clinical Center for Diabetes, Shanghai, China.
authors: Xin-Yu
authors: XY
authors: Shao
authors: Rong
authors: R
authors: Zhang
authors: Cheng
authors: C
authors: Hu
authors: Cong-Rong
authors: CR
authors: Wang
authors: Jing-Yi
authors: JY
authors: Lu
authors: Wen
authors: W
authors: Qin
authors: Hao-Yong
authors: HY
authors: Yu
authors: Yu-Qian
authors: YQ
authors: Bao
authors: Xing-Bo
authors: XB
authors: Cheng
authors: Wei-Ping
authors: WP
authors: Jia
mesh_terms: D001483:Base Sequence; D002872:Chromosome Deletion; D017931:DNA Primers; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D009693:Nucleic Acid Hybridization; D011218:Prader-Willi Syndrome / Q000235:genetics*
chemical_list: D017931:DNA Primers