Diagnosis of a fetus with a de novo 16q partial trisomy syndrome.
10.3760/cma.j.cn511374-20191101-00555
- Author:
Lanping HU
1
;
Weihong WANG
;
Hongyu LI
;
Shihao ZHOU
;
Shan LIU
;
Mengyue YANG
;
Xiufen BU
;
Jun HE
Author Information
1. Prenatal Diagnosis Center, Changsha Maternal and Child Health Care Hospital, Hunan 410007, China. 2228025865@qq.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Medical Genetics
2020;37(10):1084-1086
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVE:To carry out prenatal diagnosis on a fetus with abnormal findings by ultrasonography and non-invasive prenatal testing.
METHODS:The fetus and both parents were subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.
RESULTS:The karyotypes of both parents were normal. The fetus carried a 46,N,der(X;16)(q28;q22) unbalanced translocation. SNP-array analysis confirmed that the derived chromosomal fragment of the fetus has originated from 16q. The fetus was diagnosed with 16q partial trisomy syndrome.
CONCLUSION:Combined chromosomal karyotyping analysis and SNP-array can detect chromosomal aberrations at submicroscopic level and enable accurate diagnosis of the fetus.
