title: [Accurate detection of a case with Angelman syndrome (type 1) using SNP array].
abstract: OBJECTIVE
  To analyze a case with Angelman syndrome (AS) using single nucleotide polymorphism array (SNP array) and explore its genotype-phenotype correlation.
  
  
  METHODS
  G-banded karyotyping and SNP array were performed on a child featuring congenital malformations, intellectual disability and developmental delay. Mendelian error checking based on the SNP information was used to delineate the parental origin of detected abnormality. Result of the SNP array was validated with fluorescence in situ hybridization (FISH).
  
  
  RESULTS
  The SNP array has detected a 6.053 Mb deletion at 15q11.2q13.1 (22,770,421- 28,823,722) which overlapped with the critical region of AS (type 1). The parents of the child showed no abnormal results for G-banded karyotyping, SNP array and FISH analysis, indicating a de novo origin of the deletion. Mendelian error checking based on the SNP information suggested that the 15q11.2q13.1 deletion was of maternal origin.
  
  
  CONCLUSIONS
  SNP array can accurately define the size, location and parental origin of chromosomal microdeletions, which may facilitate the diagnosis of AS due to 15q11q13 deletion and better understanding of its genotype-phenotype correlation.
authors.affiliation: Fetal Medicine Center, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong 510630, China. mood0904@aliyun.com.
authors.forename: Shanshan
authors.initials: S
authors.lastname: Shi
authors.forename: Shaobin
authors.initials: S
authors.lastname: Lin
authors.forename: Yanfen
authors.initials: Y
authors.lastname: Liao
authors.forename: Weijing
authors.initials: W
authors.lastname: Li
mesh_terms: D017204:Angelman Syndrome / Q000235:genetics*; D002648:Child; D005838:Genotype; D006801:Humans; D007621:Karyotyping / Q000379:methods; D008297:Male; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*