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

Park JP, Moeschler JB, Berg SZ, Bauer RM, Wurster-Hill DH. A unique de novo interstitial deletion del(17)(q21.3q23) in a phenotypically abnormal infant. Clin Genet 1992:41: 54–56. 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 hyperte-lorism 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.