CURRARINO TRIAD WITH A TERMINAL DELETION 7Q35-]QTER

We describe a de novo terminal deletion of the long arm of chromosome 7 in a 5 year old girl with the Currarino triad, characterised by cong enital anorectal stenosis, a sacral defect, and a presacral mass. Rece ntly, this autosomal dominant trait has been shown to be linked to 7q3 6, the same region as holoprosencephaly (HPE3). The cytogenetic findin gs in the present patient with the Currarino triad provided further ev idence that a gene(s) for the Currarino triad is located in the 7q ter minal segment.