A newborn female was found to have a deletion of the terminal portion of 17q. Prominent manifestations included microcephaly, apparent hypertelorism, epicanthic folds, a broad nasal bridge with anteverted nostrils, posteriorly angulated ears, micrognathia, widely spaced nipples, arachnodactyly with proximal thumbs, and a coxa vara deformity. The unbalanced translocation was inherited from the mother, who had a reciprocal translocation involving the terminal portions of 2p and 17q. To the best of our knowledge, this is the first report of a liveborn infant with deletion of the distal portion of 17q with the exception of reports of patients with ring chromosome 17. Key words: partial del(l7q), chromosome 2, chromosome 17, aneuploidy, MCA syndrome IN T ROD U CT I 0 N
Abnormalities of chromosome 17 are relatively rare. Because of their rarity, deletions of distal 17q have been presumed to be incompatible with life. One report noted "possible monosomy" for the distal portion of 17q in a spontaneously aborted fetus [Salamenca-Gomez and Armendares, 19751 ; however, banding techniques were not used in this case. To our knowledge, we are reporting here the first case of partial del(l7q). We present the clinical findings in our patient, who was monosomic for l7qter and probably trisomic for a small portion of 2pter. The clinical findings are similar to those of previously reported cases of nonmosaic ring No.