Genetic analysis of a case with 2q37 microdeletion syndrome.
10.3760/cma.j.cn511374-20201020-00730
- Author:
Xiaohui LIAN
1
;
Xiao ZHANG
;
Mingyan HUANG
;
Juan LIN
;
Jian ZENG
Author Information
1. Laboratory of Basic Medicine, Dongfang Hospital (900th Hospital of Joint Logistics Support Force), Xiamen University, Fuzhou, Fujian 350025, China. zengjian1980222@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Banding;
Chromosome Deletion;
Humans;
In Situ Hybridization, Fluorescence;
Karyotyping;
Phenotype
- From:
Chinese Journal of Medical Genetics
2022;39(1):81-84
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To diagnose and fine map a deletion in chromosome region 2q37.
METHODS:G-banded chromosomal karyotyping, multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism array (SNP-array), and fluorescence in situ hybridization (FISH) were carried out in conjunct for the analysis.
RESULTS:The patient was found to have karyotype of 46,XY,del(2)(q3?), MLPA revealed one copy number of both CAPN10-3 and ATG4B-7 genes from the 2q37.3 region, Both parents were found to be normal upon chromosome karyotyping and MLPA. SNP-array has found a 9.7 Mb deletion in the 2q37.1.37.3 region. FISH analysis has confirmed there is a single copy for 2q37.3.
CONCLUSION:Combination of MLPA, FISH and SNP-array have enabled accurate diagnosis for the patient, and also provided more clues for the correlation of genotype with the phenotype of the disease, and a basis for genetic counseling.
