Prenatal diagnosis of three fetuses with small supernumerary marker chromosomes.
10.3760/cma.j.cn511374-20190919-00481
- VernacularTitle:三例胎儿额外小标记染色体的遗传学分析
- Author:
Wenwen LI
1
;
Rong FANG
;
Xueping SHEN
;
Juan YAO
;
Jianying XUE
;
Guosong SHEN
Author Information
1. Prenatal Diagnosis Center, Huzhou Women and Children's Health Care Hospital, Huzhou, Zhejiang 313000, China. shenguosong11@163.com.
- Publication Type:Journal Article
- MeSH:
Chromosome Duplication/genetics*;
Female;
Fetus;
Humans;
In Situ Hybridization, Fluorescence;
Male;
Polymorphism, Single Nucleotide;
Pregnancy;
Prenatal Diagnosis;
Translocation, Genetic/genetics*
- From:
Chinese Journal of Medical Genetics
2020;37(12):1344-1348
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the origin and mechanism of small supernumerary marker chromosomes (sSMC) in three fetuses.
METHODS:The three fetuses were predicted to have carried chromosomal abnormalities by non-invasive prenatal testing (NIPT). G-banding chromosomal karyotyping analysis were carried out on amniotic fluid samples of the fetuses and peripheral blood samples from their parents. Single nucleotide polymorphism array (SNP-array) was used to determine the origin, size and genetic effect of sSMCs.
RESULTS:In fetus 1, SNP array has detected two microduplications respectively at 4p16.3p15.2 (24.7 Mb) and 18p11.32q11.2 (20.5 Mb) which, as verified by fluorescence in situ hybridization (FISH), have derived from a balanced 46,XY,t(4;18)(p15.2q11.2) translocation carried by its father. Fetus 2 has carried a de novo microduplication of 15q11.2-q13.3 (9.7 Mb). The sequence of SMC in fetus 3 has derived from 21q11.2-q21.1 (8.3 Mb), which was inherited from its mother.
CONCLUSION:Both NIPT and SNP-array are highly accurate for the detection of sSMC. SNP-array can delineate the origin and size of abnormal chromosomes, which in turn can help with clarification of sSMC-related genotype-phenotype correlation and facilitate prenatal diagnosis and genetic counseling for the family.
