Detection of a fetus with paternally derived 2q37.3 microdeletion and 20p13p12.2 microduplication using whole genome microarray technology.
- Author:
Lin ZHANG
1
;
Meihong REN
;
Guining SONG
;
Xuexia LIU
;
Jianliu WANG
;
Xiaohong ZHANG
Author Information
- Publication Type:Case Reports
- MeSH: Abnormalities, Multiple; genetics; Adult; Chromosome Deletion; Chromosomes; genetics; Female; Fetus; abnormalities; Gene Duplication; genetics; Humans; Karyotyping; methods; Male; Pregnancy; Prenatal Diagnosis; methods
- From: Chinese Journal of Medical Genetics 2016;33(6):820-823
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo perform prenatal diagnosis for a fetus with multiple malformations.
METHODSThe fetus was subjected to routine karyotyping and whole genome microarray analysis. The parents were subjected to high-resolution chromosome analysis.
RESULTSFetal ultrasound at 28+4 weeks has indicated intrauterine growth restriction, left kidney agenesis, right kidney dysplasia, ventricular septal defect, and polyhydramnios. Chromosomal analysis showed that the fetus has a karyotype of 46,XY,der(2),der(20), t(2;20)(q37.3;p12.2), t(5;15) (q12.2;q25) pat. SNP array analysis confirmed that the fetus has a 5.283 Mb deletion at 2q37.3 and a 11.641 Mb duplication at 20p13p12.2. High-resolution chromosome analysis suggested that the father has a karyotype of 46,XY,t(2;20)(q37.3;p12.2),t(5;15)(q12.2;q25), while the mother has a normal karyotype.
CONCLUSIONThe abnormal phenotype of the fetus may be attributed to a 2q37.3 microdeletion and a 20p13p12.2 microduplication. The father has carried a complex translocation involving four chromosomes. To increase the chance for successful pregnancy, genetic diagnosis and/or assisted reproductive technology are warranted.
