Distal 11q deletion: a specific clinical entity.

Abstract

In this report we describe a male newborn with a deletion of the distal part of the long arm of chromosome 11 (46,XY,del(11)(q23.1----qter). In addition to the typical craniofacial changes of the distal 11q monosomy syndrome, i.e. trigonocephaly, short nose with upturned nares, and large mouth with downturned corners, this male newborn presented a number of peculiar additional anomalies: extremely short neck, accessory nipples and camptodactyly of all fingers. The clinical findings are in agreement with the fact that deletion of the 11q24.1 subband is essential for the characteristic phenotype, and that the additional anomalies are due to deletion of the more proximal 11q23 band.