title: [Genotype and phenotype analysis of two patients with Williams syndrome].
abstract: OBJECTIVE
  To perform genetic analysis for two patients with supravalvular aortic stenosis and unusual facial features.
  
  
  METHODS
  Cytogenetic and molecular genetic methods including chromosome karyotyping, multiplex ligation-dependent probe amplification (MLPA) and single nucleotide polymorphism array (SNP-array) were performed to detect potential mutation in the patients.
  
  
  RESULTS
  No abnormal karyotype was detected in either patient. Deletions in 7q11.23 region (1.36 Mb and 1.73 Mb, respectively) were discovered by SNP-array for the two patients. In both patients, de novo heterozygous deletion of ELN and LIMK1 genes was confirmed by MLPA analysis.
  
  
  CONCLUSIONS
  The genotypes of the two patients were identified by molecular genetic analysis, which has facilitated interpretation of the phenotypes of these patient. According to the deletion mutation, prenatal diagnosis for the family could be performed in the future.
authors.affiliation: Prenatal Diagnosis Center, Department of Gynecology and Obstetrics, Navy General Hospital, Beijing 100048, China. fbird2004@sina.com.
authors.forename: Haiyan
authors.initials: H
authors.lastname: Zhu
authors.forename: Chunyan
authors.initials: C
authors.lastname: Ji
authors.forename: Hairong
authors.initials: H
authors.lastname: Zhang
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D005260:Female; D005838:Genotype; D006801:Humans; D007223:Infant; D054461:Lim Kinases / Q000235:genetics; D008297:Male; D010641:Phenotype; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: C515892:LIMK1 protein, human; D054461:Lim Kinases