Genotype and phenotype study of two patients with 22q11.2 deletion syndrome.
- Author:
Haiyan ZHU
1
;
Aiming WANG
;
Hairong ZHANG
;
Chunyan JI
;
Xiaohua ZHAN
Author Information
- Publication Type:Case Reports
- MeSH: Abnormalities, Multiple; genetics; pathology; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 22; genetics; DiGeorge Syndrome; genetics; pathology; Ear, External; abnormalities; Genotype; Humans; In Situ Hybridization, Fluorescence; Infant; Karyotyping; Male; Microarray Analysis; methods; Phenotype; Polymorphism, Single Nucleotide; Syndrome
- From: Chinese Journal of Medical Genetics 2014;31(5):623-627
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo carry out genetic analysis for two patients affected with congenital heart disease, developmental delay with or without cleft palate.
METHODSCytogenetic and molecular genetic methods including karyotyping, fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and single nucleotide polymorphisms array (SNP-array) were employed to detect potential mutations. For parents of both patients, MLPA was used to analyze whether they were carrier of the deletion.
RESULTSFor neither patient, no abnormality was detected upon karyotype analysis. However, FISH analysis has indicated the presence of 22q11.2 deletion. SNP-array analysis has confirmed that both patients have carried a 2.5 Mb deletion in the 22q11.2 region. MLPA analysis suggested none of the parents has carried the same deletion.
CONCLUSIONAlthough the phenotypes of our patients were not identical, they were both diagnosed as 22q11.2 deletion syndrome by multiple methods. The deletions in both cases were de novo in nature. Precise delineation of the genotype can facilitate better understanding of the patients' phenotype.
