Hum Genet. 1986 Oct;74(2):190-2.

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

Yamamoto Y, Sawa R, Okamoto N, Matsui A, Yanagisawa M, Ikemoto S.

Abstract

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.

PMID:: 3490426; [PubMed - indexed for MEDLINE]

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Deletion (14) (q24.3q32.1): evidence for a distinct clinical phenotype. [Am J Med Genet. 1992]
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