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.
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000378:metabolism; D002675:Child, Preschool; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14; D002658:Developmental Disabilities / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D010641:Phenotype; D014071:Tooth Abnormalities / Q000235:genetics; D000514:alpha 1-Antichymotrypsin / Q000172:deficiency / Q000235:genetics; D000515:alpha 1-Antitrypsin / Q000235:genetics; D019896:alpha 1-Antitrypsin Deficiency
D000514:alpha 1-Antichymotrypsin; D000515:alpha 1-Antitrypsin