title: [Phenotype-genotype correlation analysis of 12 cases with Angelman/Prader-Willi syndrome].
abstract: OBJECTIVE
  To investigate the genotype-phenotype correlation in patients with Angelman syndrome/Prader-Willi syndrome (AS/PWS) and assess the application value of high-resolution single nucleotide polymorphism microarrays (SNP array) for such diseases.
  
  
  METHODS
  Twelve AS/PWS patients were diagnosed through SNP array, fluorescence in situ hybridization (FISH) and karyotype analysis. Clinical characteristics were analyzed.
  
  
  RESULTS
  Deletions ranging from 4.8 Mb to 7.0 Mb on chromosome 15q11.2-13 were detected in 11 patients. Uniparental disomy (UPD) was detected in only 1 patient. Patients with deletions could be divided into 2 groups, including 7 cases with class I and 4 with class II. The two groups however had no significant phenotypic difference. The UPD patient had relatively better development and language ability. Deletions of 6 patients were confirmed by FISH to be of de novo in origin. The risk to their sibs was determined to be less than 1%.
  
  
  CONCLUSIONS
  The phenotypic differences between AS/PWS patients with class I and class II deletion need to be further studied. SNP array is useful in detecting and distinguishing of patients with deletion or UPD. This method may be applied for studying the genotype-phenotype association and the mechanism underlying AS/PWS.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, Changsha, Hunan 410078, P. R. China. wulingqian@sklmg.edu.cn.
authors.forename: Chen
authors.initials: C
authors.lastname: Chen
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.forename: Yan
authors.initials: Y
authors.lastname: Xia
authors.forename: Haoxian
authors.initials: H
authors.lastname: Li
authors.forename: Huimin
authors.initials: H
authors.lastname: Zhu
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.forename: Fei
authors.initials: F
authors.lastname: Yin
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
mesh_terms: D017204:Angelman Syndrome / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*