Prenatal diagnosis of a fetus with two small supernumerary marker chromosomes
10.3760/cma.j.issn.1003-9406.2019.12.018
- VernacularTitle: 一例罕见双额外微小标记染色体的产前诊断
- Author:
Jian ZHANG
1
;
Yu JIANG
;
Meijiao CAI
;
Yunsheng GE
;
Yulin ZHOU
;
Wenbo WANG
Author Information
1. Central Laboratory, Women and childrens Hospital, School of Medicine, Xiamen University, Xiamen Maternal and Child Health Care Hospital, Xiamen, Fujian 361003, China
- Publication Type:Clinical Trail
- Keywords:
Supernumerary small marker chromosome;
Prenatal diagnosis;
Single nucleotide polymorphism microarray
- From:
Chinese Journal of Medical Genetics
2019;36(12):1222-1225
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins.
Methods:G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs.
Results:The karyotype of the fetus was determined as 47, XX, + mar[53]/48, XX, + 2 mar[31]/46, XX[14]. SNP-array has revealed four copies of chromosome 2q11.1q11.2 with a size of 2.6 Mb and three copies of 10p11.23q11.23 with a size of 20.6 Mb. The results was confirmed by FISH.
Conclusion:A rare chromosomal abnormality with two sSMCs was identified by combined karyotype analysis, SNP-array and FISH, which provided valuable information for prenatal diagnosis.
