Cytogenetic analysis of a complex chromosomal imbalance 14q+ in a fetus featuring multiple congenital defects.
- VernacularTitle:染色体14q+畸形胎儿的产前细胞遗传学研究
- Author:
Li LI
1
;
Xiao-yan ZHOU
;
Xiu-qing JI
;
Yin-qiu YANG
;
Li CAO
;
Jing ZHOU
;
An LIU
;
Jian CHENG
;
Ye LIU
;
Ping HU
;
Zheng-feng XU
Author Information
- Publication Type:Journal Article
- MeSH: Abnormalities, Multiple; diagnosis; genetics; Adult; Chromosome Aberrations; Chromosomes, Human, Pair 14; Cytogenetic Analysis; methods; Female; Fetal Diseases; diagnosis; genetics; Humans; Pregnancy; Prenatal Diagnosis; methods
- From: Chinese Journal of Medical Genetics 2012;29(2):214-217
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo analyze chromosomal imbalance in a fetus presenting with congenital heart disease and mild lateral ventriculomegaly, and to investigate the correlation between genotype and phenotype. The etiology of the fetal congenital diseases was determined, and the feasibility of array-based comparative genomic hybridization (array-CGH) application in molecular cytogenetic diagnosis was evaluated.
METHODSFollowing conventional G-banding analysis, array-based comparative genomic hybridization (array-CGH) was applied to delineate the precise location and size of genomic imbalance.
RESULTSA de novo 46, XY, -14, +der14(q31)? karyotype was identified in the fetus by G-banding analysis. Array-CGH has verified the chromosomal imbalance to be 46, XY, -14, +der(12; 14) (p13; q32.33)del(14) (q32.33→ qter).
CONCLUSIONdel(14)(q32.33→ qter) is probably the predominant cause of the fetal congenital disease. For its high resolution and accuracy, array-CGH has provided a powerful tool for prenatal diagnosis and genetic counseling.
