Deletion (14) (q24.3q32.1): evidence for a distinct clinical phenotype.

We report on a 4-year-old girl with distinctive facial features (redundant skin, bushy eyebrows, narrow palpebral fissures, short, upturned nose, epicanthal folds, and a long upper lip with well-defined philtrum) who has an interstitial deletion of chromosome 14 including band 14q31, designated as 46,XX,del(14)(pter-->q24.3::q32.1-->qter). Comparison with previously reported patients with deletions of 14q involving band 14q31 suggests that there is a distinctive clinical phenotype associated with this deletion. Our patient had dental abnormalities (3 maxillary and 3 mandibular incisors) not described in the other patients.