Genotype and phenotype analysis of two patients with Williams syndrome.
- Author:
Haiyan ZHU
1
;
Chunyan JI
;
Hairong ZHANG
Author Information
- Publication Type:Case Reports
- MeSH: Child; Chromosome Deletion; Chromosomes, Human, Pair 7; genetics; Female; Genotype; Humans; Infant; Lim Kinases; genetics; Male; Phenotype; Williams Syndrome; genetics
- From: Chinese Journal of Medical Genetics 2016;33(1):68-70
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo perform genetic analysis for two patients with supravalvular aortic stenosis and unusual facial features.
METHODSCytogenetic 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.
RESULTSNo 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.
CONCLUSIONThe 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.
