Detection of 9p partial trisomy using array-based comparative genomic hybridization.
- VernacularTitle:微阵列比较基因组杂交技术诊断9p部分三体患儿一例
- Author:
Xiao-yan ZHOU
1
;
Ping HU
;
Yin-qiu YANG
;
Li LI
;
Yan WANG
;
Zhang-bin YU
;
Shu-ping HAN
;
Xi-rong GUO
;
Zheng-feng XU
Author Information
- Publication Type:Journal Article
- MeSH: Child, Preschool; Chromosome Aberrations; Chromosomes, Human, Pair 9; genetics; Comparative Genomic Hybridization; methods; Female; Humans; Male; Pregnancy; Trisomy; diagnosis; genetics
- From: Chinese Journal of Medical Genetics 2012;29(1):52-55
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect chromosomal aberrations in a child with developmental delay and speech and language disorders in order to explore the underlying genetic causes of congenital malformation, and to investigate the feasibility of array-based comparative genomic hybridization (array-CGH) for molecular genetic diagnosis.
METHODSG-banding and array-CGH were applied to characterize the genetic abnormality in the three family members.
RESULTSG-banding analysis revealed the affected child and the healthy mother are both carriers of inv(9)(p13q13), while the child has carried a chromosome fragment derived from chromosome 13. Array-CGH analysis indicated the derivative chromosome fragment has originated from 9p with breakpoints at around 9p13.1-p24.3.
CONCLUSIONTrisomy 9p13.1-p24.3 may be the cause of congenital malformation in the child. For its high resolution and high accuracy, array-CGH is a powerful tool for genetic analysis.
