Analysis of 22 patients with congenital cleft lip and palate using high-resolution chromosome microarray.
- Author:
Tingying LEI
1
;
Ying ZHANG
;
Hongtao WANG
;
Fan LI
;
Yingqiu CUI
;
Fang FU
;
Ru LI
;
Guie XIE
;
Yongling ZHANG
;
Can LIAO
Author Information
- Publication Type:Journal Article
- MeSH: Child; Child, Preschool; Chromosome Aberrations; Chromosome Disorders; diagnosis; genetics; Cleft Lip; diagnosis; genetics; Cleft Palate; diagnosis; genetics; DNA Copy Number Variations; Female; Humans; Infant; Male; Microarray Analysis
- From: Chinese Journal of Medical Genetics 2014;31(4):433-437
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo assess the value of chromosome microarray analysis (CMA) for identifying the etiology of patients with congenital cleft lip and palate.
METHODSTwenty-two patients with no identifiable chromosomal aberrations by conventional cytogenetic technique were selected. DNA was extracted and hybridized with Affymetrix CytoScan(TM) HD arrays following the manufacturer's protocol. The data were analyzed with a CHAS v2.0 software.
RESULTSCMA analysis has identified submicroscopic copy number variants (CNVs) in all of the cases, which have ranged from 100 kb to 1.8 Mb. Potential pathogenic CNVs were identified in 5 patients (22.7%), which involved microdeletions and microduplications on 8p23.1, 10q22.2-q22.3, 6q26, 20p12.1 and 18q12.3. MYST4, MACROD2 and SOX7 genes are likely the causative genes.
CONCLUSIONCMA is an effective method for identification of etiology in patients with cleft lip and palate. CMA should be provided for patients with cleft lip and palate but a normal karyotype. Especially for those with additional structural abnormalities, there is a high risk for submicroscopic chromosomal aberrations.
