Application of single nucleotide polymorphism-array for the diagnosis of Williams-Beuren syndrome in a case.
- VernacularTitle:应用单核苷酸多态性芯片技术诊断 Williams-Beuren 综合征一例
- Author:
Jiao LI
1
;
Juan DU
;
Huayu FU
;
Jin WANG
;
Zhou YU
Author Information
- 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.
