Microarray-based comparative genomic hybridization analysis of Wolf-Hirschhorn syndrome in a fetus with deletion of 4p15.3 to 4pter.

BACKGROUND: Wolf-Hirschhorn syndrome (WHS), caused by the deletion of a segment in chromosome 4, is characterized by mental and developmental defects. Clinical manifestations of WHS include intrauterine growth restriction, failure to thrive in the neonatal period that is present simultaneously with hypotonia, typical "Greek helmet" facial appearance, cleft lip and palate, mental deficiency, and seizures.

CASE: We present a case of WHS with prenatal conventional cytogenetics of 46,XY,der(4)t(4;13)(p15.3;p11.2)pat. High-resolution mapping using microarray-based comparative genomic hybridization (array-CGH), including Affymetrix 10K arrays and cDNA microarrays, confirmed the loss of genes in the deleted region.

CONCLUSIONS: The correlation between these candidate genes and the phenotypes of WHS may expand our understanding of the defective development caused by 4p deletion.