Genetic analysis of an infant with duplication 9q34 syndrome.
- Author:
Yu TONG
1
;
Shengyu YAN
;
Jianyou SHI
;
Lu CHEN
;
Cheng WAN
;
Kai XU
Author Information
- Publication Type:Journal Article
- From: Chinese Journal of Medical Genetics 2018;35(3):437-439
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo determine the genetic cause of an infant with multiple congenital anomalies.
METHODSRoutine karyotype analysis and chromosome microarray analysis (CMA) were carried out for the infant and her parents.
RESULTSCMA has detected a 9.3 Mb duplication at 9q34.11-q34.3. G-banding analysis suggested that the infant has a 46,XX,der(1)add(1)(p34.1) karyotype, while her father was 46, XY, t(1,9)(p36.3;q34.1). Fluorescence in situ hybridization (FISH) analysis confirmed that the 9q34 duplication has derived from the balanced translocation carried by the father.
CONCLUSIONA 9.3 Mb duplication was detected within the 9q34 region in an infant featuring multiple congenital anomalies. CMA and FISH have enabled detection of this duplication and facilitated genetic counseling and prevention of birth of further affected offspring.
