ECTRODACTYLY AND PROXIMAL INTERMEDIATE INTERSTITIAL DELETION 7Q

We report on an individual with severe mental retardation, seizures, m icrocephaly, unusual face, scoliosis, and cleft feet and cleft right h and, The chromosomal study showed a proximal interstitial deletion 7q (q11.23q22). From our review of the literature, 11 patients have been reported with ectrodactyly (split hand/split foot malformation) and pr oximal/intermediate interstitial deletions or rearrangements of 7q, Th e critical segment for ectrodactyly seems to be located between 7q21.2 and 7q22.1. This malformation is present in 41% of the patients whose deletion involves the critical segment. (C) 1995 Wiley-Liss, Inc.