Genetic analysis of a Chinese pedigree affected with congenital split-hand/foot malformation.
10.3760/cma.j.cn511374-20200914-00668
- Author:
Libin MEI
1
;
Xuemei HE
;
Haijie GAO
;
Yanru HUANG
;
Xiaolin WU
;
Huan HE
;
Ping LI
Author Information
1. Xiamen Key Laboratory of Reproduction and Genetics, Xiamen Maternal and Child Health Care Hospital, Women and Children's Hospital Affiliated to Xiamen University, Fujian 361003, China. saarc2001@sina.com.
- Publication Type:Journal Article
- MeSH:
China;
DNA Copy Number Variations/genetics*;
Foot Deformities, Congenital/genetics*;
Hand Deformities, Congenital/genetics*;
Humans;
Pedigree
- From:
Chinese Journal of Medical Genetics
2021;38(12):1208-1210
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To analyze the molecular genetics of a Chinese pedigree with congenital hand foot cleft.
METHODS:Single nucleotide polymorphism microarray (SNP array) was used to analyze the whole genome copy number variation.
RESULTS:SNP array analysis showed that there was a 433 kb repeat in 10q24.31-10q24.32 region, which contained LBX1, BTRC, POLL, OPCD and FBXW4 genes.
CONCLUSION:Microduplication of chromosome 10q24.31-10q24.32 may be the cause of congenital hand foot cleft in this pedigree.
