Clinical and cytogenetic study in a child with de novo chromosome 9 abnormality.
- Author:
Bi-Yu LU
1
;
Jian-Qiang TAN
;
De-Jian YUAN
;
Wen-Dan WANG
;
Xiao-Ni WEI
;
Ti-Zhen YAN
;
Ren CAI
Author Information
1. Department of Medical Genetics, Liuzhou Maternal and Child Health Hospital, Liuzhou, Guangxi 545001, China. lzcairen@126.com.
- Publication Type:Journal Article
- From:
Chinese Journal of Contemporary Pediatrics
2018;20(1):52-55
- CountryChina
- Language:Chinese
-
Abstract:
This study aimed to analyze the clinical phenotype of chromosome 9p deletion or duplication and its relationship with karyotype. A patient, female, aged 6 months, visited the hospital due to motor developmental delay. Karyotype analysis identified abnormalities of chromosome 9 short arm, and high-throughput sequencing found 9p24.3-9p23 deletion and 9p23-9p13.1 duplication. Her parents had a normal karyotype. Karyotype analysis combined with high-throughput sequencing is of great significance for improving the efficiency of etiological diagnosis in children with motor developmental delay or multiple congenital deformities and mental retardation.
