Prenatal diagnosis of a rare case of 7q11.23 duplication syndrome.
- VernacularTitle:一例罕见7q11.23重复综合征的产前诊断
- Author:
Guangjuan MA
1
;
Yulin JIANG
;
Zhen YU
;
Wencheng DAI
;
Ning LIU
;
Huijun LI
;
Gulinazi MIJITI
Author Information
- Publication Type:Case Reports
- MeSH: Adult; Chromosome Banding; Chromosome Disorders; diagnosis; embryology; genetics; Chromosomes, Human, Pair 7; genetics; Female; Fetal Diseases; diagnosis; genetics; Humans; Male; Middle Aged; Pregnancy; Prenatal Diagnosis; Trisomy; genetics
- From: Chinese Journal of Medical Genetics 2017;34(2):244-246
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo explore the application of combined techniques for the prenatal diagnosis of a case with 7q11.23 duplication.
METHODSAmniocentesis was performed in the second trimester for a mother with a high risk suggested by serological prenatal screening. G-banded chromosomal analysis was performed on cultured amniocytes and peripheral blood samples from both parents. DNA from amniotic fluid sample was isolated for a BACs-on-Beads (BoBs) assay. To define the range of duplication, copy number variation was determined with single nucleotide polymorphism array (SNP array, Affymetrix CytoScan 750K) and fluorescence in situ hybridization (FISH) analysis.
RESULTSChromosomal analysis suggested that the fetus and both parents all had a normal karyotype, while a duplication of 7q11.23 was detected by the BoBs assay. SNP array revealed a 1.5 Mb duplication in chromosome 7q11.23, which was confirmed by FISH.
CONCLUSIONCombined prenatal BoBs, SNP array and FISH has enabled effective diagnose of a case with 7q11.23 syndrome.
