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[Cytogenetic analysis of a complex chromosomal imbalance 14q+ in a fetus featuring multiple congenital defects].

College of Public Health of Nanjing Medical University, Nanjing, Jiangsu, People's Republic of China.
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 04/2012; 29(2):214-7. DOI: 10.3760/cma.j.issn.1003-9406.2012.02.021
Source: PubMed

ABSTRACT To 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.
Following conventional G-banding analysis, array-based comparative genomic hybridization (array-CGH) was applied to delineate the precise location and size of genomic imbalance.
A 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).
del(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.

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