Two patients with interstitial del (14q), one with features of Holt-Oram syndrome. Exclusion mapping of PI (alpha-1-antitrypsin).
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.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002901:Chromosomes, Human, 13-15; D006801:Humans; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D000515:alpha 1-Antitrypsin / Q000235:genetics*
D000515:alpha 1-Antitrypsin