Molecular characterization of a ring chromosome 15 in a fetus with intra uterine growth retardation and diaphragmatic hernia

Abstract

Objective: To improve the phenotype-genotype correlation in terminal 15q deletions and ring chromosome 15 syndrome.

Methods: Echographic examination of fetus. R-banded chromosome and FISH analysis on cultured amniocytes. Microsatellite analysis to determine parental origin of the ring chromosome 15. Fetal autopsy.

Results: We report a new case of prenatal diagnosis of congenital diaphragmatic hernia and intrauterine growth retardation in a fetus with ring chromosome 15 involving 15q26.1-qter deletion.

Conclusion: This case support the evidence that the region 15q26.3 is implicated in intrauterine growth retardation and suggests that the 15q critical region implicated in congenital diaphragmatic hernia is localized in 15q26.1-q26.2.