[Prenatal diagnosis of a fetus with 8q13.3 microdeletion through chromosomal microarray analysis].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 38(3): 268-270, 2021 Mar 10.
Article
em Zh
| MEDLINE
| ID: mdl-33751539
ABSTRACT
OBJECTIVE:
To assess the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of a fetus with structural anomaly detected by ultrasonography.METHODS:
The fetus and its parents were subjected to chromosomal karyotyping and CMA analysis.RESULTS:
The fetus was found to carry a 46,XN,t(8;11)(q21.2;q13) translocation which was inherited from its mother. CMA has found no copy number variations (CNVs) in both parents but a de novo 2.00 Mb microdeletion in the fetus at 8q13.3.CONCLUSION:
CMA is capable of detecting microdeletions and microduplications in fetuses with translocations detected by karyotyping analysis.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Aberrações Cromossômicas
Tipo de estudo:
Diagnostic_studies
Limite:
Female
/
Humans
/
Pregnancy
Idioma:
Zh
Ano de publicação:
2021
Tipo de documento:
Article