Delineating a case with a complex karyotype by using combined genetic techniques.
- Author:
Ning HAN
1
;
Lu KUANG
;
Bing ZHU
;
Liang HUA
;
Wanling LI
Author Information
- Publication Type:Case Reports
- MeSH: Chromosome Aberrations; Chromosome Banding; methods; Female; Heart Defects, Congenital; genetics; Humans; Infant; Intellectual Disability; genetics; Karyotyping; methods; Liver Diseases; genetics
- From: Chinese Journal of Medical Genetics 2017;34(4):559-562
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the pathogenesis of a child with growth retardation, liver damage and congenital heart disease.
METHODSG-banded chromosomal karyotyping, high-throughput next-generation sequencing (HT-NGS)and fluorescence in situ hybridization(FISH) were used to characterize the structural chromosomal aberration.
RESULTSThe child was found to have a karyotype of 46, XX, t(1;2) (q25;q21), t(7;20) (q21;p13). HT-NGS has detected a microdeletion at 2q21.3 and 7q21.11, respectively, which were verified by FISH.
CONCLUSIONCombined cytogenetic and molecular analysis can detect chromosome micrdeletions more precisely. The abnormalities of the child may be attributed to heterozygous deletion of ZEB2, ABCB4 and SEMA3A genes.
