title: Holt-Oram syndrome in four half-siblings with unaffected parents: brief clinical report.
abstract: The Holt-Oram syndrome was diagnosed in four offspring of three mothers and the same unaffected father. One additional child lacked the characteristic clinical features of the Holt-Oram syndrome. In contrast to the general autosomal dominant inheritance with complete penetrance, our observation suggests a paternal mutation, resulting in mosaicism, probably restricted to the germline.
authors.affiliation: Institute of Human Genetics, University of Göttingen, FRG.
authors.forename: I
authors.initials: I
authors.lastname: Braulke
authors.forename: S
authors.initials: S
authors.lastname: Herzog
authors.forename: U
authors.initials: U
authors.lastname: Thies
authors.forename: B
authors.initials: B
authors.lastname: Zoll
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D000293:Adolescent; D002648:Child; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant / Q000235:genetics*; D006580:Genetic Carrier Screening; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006330:Heart Defects, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011884:Radius / Q000002:abnormalities; D013577:Syndrome; D014457:Ulna / Q000002:abnormalities