Prenatal diagnosis and genetic analysis of a fetus with partial deletion of Yq and mosaicism of 45,X.
10.3760/cma.j.cn511374-20220809-00534
- VernacularTitle:Y长臂部分缺失伴X单体嵌合性发育异常胎儿1例的产前诊断及遗传学分析
- Author:
Lijuan WANG
1
,
2
;
Hui GUO
;
Qi LIN
;
Zhiyang HU
;
Huiyan HE
;
Mei YE
;
Zhuojian LIANG
;
Wenlong HU
;
Hui GAO
;
Di MA
;
Yaqin SONG
Author Information
1. Forensic Evidence Laboratory, Shenzhen People's Hospital (the Second Clinical Medical College of Jinan University
2. the First Affiliated Hospital of Southern University of Science and Technology), Shenzhen, Guangdong 518020, China. guohui600@163.com.
- Publication Type:Journal Article
- MeSH:
Prenatal Diagnosis;
Mosaicism;
Chromosomes, Human, X;
Chromosomes, Human, Y;
Humans;
Male
- From:
Chinese Journal of Medical Genetics
2023;40(6):744-749
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out prenatal diagnosis and genetic analysis for a fetus with disorders of sex development (DSDs).
METHODS:A fetus with DSDs who was identified at the Shenzhen People's Hospital in September 2021 was selected as the study subject. Combined molecular genetic techniques including quantitative fluorescence PCR (QF-PCR), multiplex ligation-dependent probe amplification (MLPA), chromosomal microarray analysis (CMA), quantitative real-time PCR (qPCR), as well as cytogenetic techniques such as karyotyping analysis and fluorescence in situ hybridization (FISH) were applied. Ultrasonography was used to observe the phenotype of sex development.
RESULTS:Molecular genetic testing suggested that the fetus had mosaicism of Yq11.222qter deletion and X monosomy. Combined with the result of cytogenetic testing, its karyotype was determined as mos 45,X[34]/46,X,del(Y)(q11.222)[61]/47,X,del(Y)(q11.222),del(Y)(q11.222)[5]. Ultrasound examination suggested hypospadia, which was confirmed after elective abortion. Combined the results of genetic testing and phenotypic analysis, the fetus was ultimately diagnosed with DSDs.
CONCLUSION:This study has applied a variety of genetic techniques and ultrasonography to diagnose a fetus with DSDs with a complex karyotype.
