Prenatal diagnosis of partial trisomy 3q in a fetus.
10.3760/cma.j.issn.1003-9406.2019.08.015
- Author:
Ning SU
1
;
Guiyu LOU
;
Hongdan WANG
;
Bingtao HAO
;
Shixiu LIAO
Author Information
1. Medical Genetics Institute of Henan Province, People' s Hospital of Zhengzhou University, Henan Provincial People' s Hospital, Zhengzhou, Henan 450003, China. ychslshx@126.com.
- Publication Type:Journal Article
- MeSH:
Chromosomes, Human, Pair 3;
genetics;
Comparative Genomic Hybridization;
Female;
Fetus;
Humans;
Karyotyping;
Male;
Pregnancy;
Prenatal Diagnosis;
Trisomy
- From:
Chinese Journal of Medical Genetics
2019;36(8):813-816
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out prenatal diagnosis for a fetus with ultrasonographic abnormality.
METHODS:Chromosomal karyotyping and array comparative genomic hybridization (array-CGH) analysis were applied for the diagnosis. Peripheral blood samples were also taken from the parents for chromosome karyotyping analysis.
RESULTS:The fetal karyotype showed additional material of unknown-origin attached to Yq. Array CGH analysis confirmed that the material was derived from 3q22.1q29. The father was found to carry a balanced translocation 46, X, t(Y;3)(q12;q23) (which was diagnosed as 46,XY,Y≥18 elsewhere), whilst the mother was found to be normal.
CONCLUSION:3q partial trisomy may present as malformation of multiple systems. Combination of chromosome karyotyping and array-CGH can provide reliable diagnosis for fetuses with abnormalities by ultrasonography.
