A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant.

We report on an infant with multiple congenital anomalies possessing a de novo, interstitially deleted no. 17 chromosome. The phenotype includes brachycephaly, club feet, delay of growth and development, and hypertelorism with upslanted palpebral fissures. We are unaware of other reported cases involving such interstitial deletion of 17, or of translocations involving the breakpoint regions observed in our case.