Objective: To report an 18-gestational-week fetus with oligohydramnios, orofacial clefting, bilateral multicystic kidneys and the Dandy-Walker malformation. Array-comparative genomic hybridization (CGH) analysis demonstrated a 12 Mb deletion of 6p24.1-->per.
Discussions: The submicroscopic deletion of the 6p25 subtelomere has been recognized as the 6p subtelomere deletion syndrome with a clinical distinguishable phenotype consisting of developmental delay, mental retardation, language impairment, hearing loss, and ophthalmologic, cardiac and craniofacial abnormalities. The candidate gene responsible for the Dandy-Walker malformation in the 6p deletion syndrome is FOXC1 (OMIM 601090) at 6p25 for forkhead transcription factor Foxc1. The candidate gene responsible for orofacial clefting in the 6p deletion syndrome is OFC1 (OMIM 119530) at 6p24.3 for orofacial cleft 1. Nakano et al. in a screening for mutations in the FOXC1 gene in congenital anomalies of the kidney and urinary tract (CAKUT) in humans identified an insertion mutation in FOXC1 with a triplet GGC in three of the seven patients with CAKUT. The present report provides evidence for one or more loci on chromosome 6p distal to 6p24.1 in association with congenital multicystic dysplasia of the kidneys.