Diagnosis of a case with Williams-Beuren syndrome by single nucleotide polymorphism array.
- Author:
Yuxia JIN
1
;
Xia LIU
;
Suping LI
;
Jiamei GE
;
Xiufang WU
;
Qinhao SONG
;
Chiyan ZHOU
;
Zhengyou MIAO
Author Information
- Publication Type:Journal Article
- MeSH: Adult; Asian Continental Ancestry Group; genetics; Child, Preschool; China; Chromosome Banding; Chromosomes, Human, Pair 7; genetics; DNA Copy Number Variations; Female; Humans; Karyotyping; Male; Pedigree; Polymorphism, Single Nucleotide; Williams Syndrome; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2015;32(4):529-532
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the genetic cause for a child with mental retardation, developmental delay and multi-systemic developmental disorders by analyzing the copy number variations (CNVs) and correlating the genotype with the phenotype.
METHODSRoutine G-banding was performed to analyze the karyotype of the patient and her parents. In addition, single nucleotide polymorphisms array (SNP-array) was used to determine the CNVs, which was confirmed by fluorescence in situ hybridization (FISH).
RESULTSNo karyotypic abnormality was detected upon chromosome analysis. However, SNP-array has identified a de novo hemizygous deletion of 1673 kb on chromosome region 7q11.23, which has been associated with Williams-Beuren syndrome. The microdeletion was confirmed by FISH testing.
CONCLUSIONA child with Williams-Beuren syndrome has been diagnosed by SNP-array and FISH. The de novo 7q11.23 microdeletion probably underlies the clinical manifestation of the patient. Compared with routine karyotype analysis, SNP-array is more useful for diagnosing children with multiple congenital anomalies with unclear etiology.
