Prenatal diagnosis and genetic analysis of three fetuses with paternal chromosomal simplex 3q microduplication syndrome.
10.3760/cma.j.cn511374-20211123-00933
- VernacularTitle:父源性3q微重复综合征胎儿的产前诊断及遗传学分析
- Author:
Laiping ZHENG
1
;
Congmian REN
;
Fangmei XU
;
Li GUO
;
Ting WANG
;
Yiqun HE
Author Information
1. Medical Genetic Center, Guangdong Women and Children's Hospital, Guangzhou, Guangdong 511442, China. yq3375@163.com.
- Publication Type:Journal Article
- MeSH:
Female;
Pregnancy;
Humans;
Male;
Prenatal Diagnosis;
Genetic Testing;
Fetus;
Syndrome;
Mothers;
Fathers
- From:
Chinese Journal of Medical Genetics
2022;39(12):1406-1409
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To explore the phenotypic characteristics of paternal chromosomal simplex 3q microduplication syndrome.
METHODS:Amniotic fluid samples of 3 fetuses from a same couple were subjected to prenatal diagnosis through combined high-resolution chromosomal G-banding karyotyping and chromosomal microarray analysis (CMA). Peripheral blood samples were also collected the couple for the determination of parental origin.
RESULTS:The karyotypes of all three fetuses were 46,XN,dup(3)(q25q26.1), and their CMA results were arr[hg19]3q25.33q26.1(159 336 333-166 924 969)×3. The duplication in the three fetuses have all derived from their father. No anomaly with found with the mother by CMA .
CONCLUSION:Through combined G-banded chromosomal karyotyping and CMA assay, a paternally derived 3q25.33-q26.1 microduplication has been identified, which has enabled genetic counseling for this couple.
