title: Analyses of Genotypes and Phenotypes of Ten Chinese Patients with Wolf-Hirschhorn Syndrome by Multiplex Ligation-dependent Probe Amplification and Array Comparative Genomic Hybridization.
abstract: BACKGROUND
  Wolf-Hirschhorn syndrome (WHS) is a contiguous gene syndrome that is typically caused by a deletion of the distal portion of the short arm of chromosome 4. However, there are few reports about the features of Chinese WHS patients. This study aimed to characterize the clinical and molecular cytogenetic features of Chinese WHS patients using the combination of multiplex ligation-dependent probe amplification (MLPA) and array comparative genomic hybridization (array CGH).
  
  
  METHODS
  Clinical information was collected from ten patients with WHS. Genomic DNA was extracted from the peripheral blood of the patients. The deletions were analyzed by MLPA and array CGH.
  
  
  RESULTS
  All patients exhibited the core clinical symptoms of WHS, including severe growth delay, a Greek warrior helmet facial appearance, differing degrees of intellectual disability, and epilepsy or electroencephalogram anomalies. The 4p deletions ranged from 2.62 Mb to 17.25 Mb in size and included LETM1, WHSC1, and FGFR3.
  
  
  CONCLUSIONS
  The combined use of MLPA and array CGH is an effective and specific means to diagnose WHS and allows for the precise identification of the breakpoints and sizes of deletions. The deletion of genes in the WHS candidate region is closely correlated with the core WHS phenotype.
authors.forename: Wen-Xu
authors.initials: WX
authors.lastname: Yang
authors.affiliation: Department of Central Laboratory, Peking University First Hospital, Beijing 100034, China.
authors.forename: Hong
authors.initials: H
authors.lastname: Pan
authors.forename: Lin
authors.initials: L
authors.lastname: Li
authors.forename: Hai-Rong
authors.initials: HR
authors.lastname: Wu
authors.forename: Song-Tao
authors.initials: ST
authors.lastname: Wang
authors.forename: Xin-Hua
authors.initials: XH
authors.lastname: Bao
authors.forename: Yu-Wu
authors.initials: YW
authors.lastname: Jiang
authors.forename: Yu
authors.initials: Y
authors.lastname: Qi
mesh_terms: D002648:Child; D002675:Child, Preschool; D055028:Comparative Genomic Hybridization / Q000379:methods*; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D060885:Multiplex Polymerase Chain Reaction / Q000379:methods*; D010641:Phenotype; D054877:Wolf-Hirschhorn Syndrome / Q000235:genetics*