[Prenatal diagnosis and genetic analysis of a fetus with partial deletion of Yq and mosaicism of 45,X].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 40(6): 744-749, 2023 Jun 10.
Article
em Zh
| MEDLINE
| ID: mdl-37212014
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Mosaicismo
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Humans
/
Male
Idioma:
Zh
Ano de publicação:
2023
Tipo de documento:
Article