Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin)

Abstract

Patient no 1, a boy, was carrier of a de novo del (14) (pter- greater than q23::q32- greater than qter). Patient no 2, a boy, had a de novo del (14) (pter- greater than q23::q24.2- greater than qter). Common dysmorphisms included bushy eyebrows, frontal bossing, and micrognathia. Patient no 2 had features of Holt-Oram syndrome, i.e. congenital heart defect and severe ulnar defect. Patient no 1 had congenital heart defect but no typical osseous disorders. The association of Holt-Oram syndrome and del 14q24.1 is stressed. Patient no 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.