Deletion 14q(q24.3 to q32.1) syndrome: significance of peculiar facial appearance in its diagnosis, and deletion mapping of Pi(alpha 1-antitrypsin).

A 10-month-old Japanese boy who had interstitial deletion of the long arm of chromosome No. 14; 46,XY, del(14)(pter----q24.3: :q32.1----qter) is reported. A peculiar facial appearance, including round face, frontal hypertrichosis with thick eyebrows, horizontal narrow palpebral fissures, a short bulbous nose with a flat nasal root, and mild micrognathia, appeared to be common with the two previously reported cases. We stress the significance of this peculiar facial appearance in the diagnosis of 14q-(q24.3 to q32.1) syndrome. The level of alpha 1-antitrypsin in the patient was only about half of that of his parents and controls, and the Pi locus was tentatively assigned to band 14q32.1.