Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case.

Author: Jiao LI ¹ ; Juan DU ; Huayu FU ; Jin WANG ; Zhou YU
Author Information

1. Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi 530003, China. Email: loveyuzhou1982@gmail.com.
Publication Type:Case Reports
MeSH: Child; Chromosome Deletion; Chromosomes, Human, Pair 7; Female; Humans; Oligonucleotide Array Sequence Analysis; Polymorphism, Single Nucleotide; Williams Syndrome; genetics
From: Chinese Journal of Medical Genetics 2016;33(4):505-507
CountryChina
Language:Chinese
Abstract:
OBJECTIVETo apply single nucleotide polymorphism array (SNP-array) for the diagnosis of Williams-Beuren syndrome (WBS) in a patient.
METHODSChromosome G-banding and SNP-array were used to analyze a girl featuring mental retardation.
RESULTSThe karyotypes of the child and her parents were all normal, but SNP-array showed a 1.9 Mb deletion at 7q11.23 in the patient. The same deletion was not found in her parents.
CONCLUSIONThe mental retardation and special facies of the girl were probably due to the 7q11.23 microdeletion. SNP-array has an important value for the diagnosis of mental retardation.