2 PATIENTS WITH INTERSTITIAL DEL (14Q), ONE WITH FEATURES OF HOLT-ORAM SYNDROME - EXCLUSION MAPPING OF PI (ALPHA-1-ANTITRYPSIN)

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  • 1 January 1984
    • journal article
    • research article
    • Vol. 27  (4) , 237-240
Abstract
Patient n.degree. 1, a boy, was carrier of a de novo del (14) (pter-> q23::q32-> qter). Patient n.degree. 2, a boy, had a de novo del (14) (pter-> q23::q24.2-> qter). Common dysmorphisms included bushy eyebrows, frontal bossing and micrognathia. Patient n.degree. 2 had features of Holt-Oram syndrome, i.e., congenital heart defect and severe ulnar defect. Patient n.degree. 1 had congenital heart defect but no typical osseous disorders. The association of Holt-Oram syndrome and del 14q24.1 is stressed. Patient n.degree. 1 was heterozygous for Pl (.alpha.-1-antitrypsin) phenotypes. The gene locus could thus be excluded from q24 and q31, and tentatively assigned to q32.1.

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