title: Autosomal dominant transmission of Pallister-Hall syndrome.
abstract: A mother and daughter with Pallister-Hall syndrome are described. This documented parent-to-child transmission supports the hypothesis of autosomal dominant inheritance of this condition. The mother survived childhood and became pregnant without exogenous endocrine supplements, demonstrating that the gene manifests variable expressivity.
authors.affiliation: Division of Human Genetics, University of Newcastle upon Tyne, UK.
authors.forename: M
authors.initials: M
authors.lastname: Penman Splitt
authors.forename: C
authors.initials: C
authors.lastname: Wright
authors.forename: R
authors.initials: R
authors.lastname: Perry
authors.forename: J
authors.initials: J
authors.lastname: Burn
mesh_terms: D000328:Adult; D005260:Female; D005799:Genes, Dominant; D006222:Hamartoma / Q000235:genetics*; D006801:Humans; D007018:Hypopituitarism / Q000235:genetics*; D007027:Hypothalamic Diseases / Q000235:genetics*; D007029:Hypothalamic Neoplasms / Q000235:genetics*; D007231:Infant, Newborn; D008297:Male; D017689:Polydactyly / Q000235:genetics* / Q000601:surgery; D011247:Pregnancy; D013576:Syndactyly / Q000235:genetics; D013577:Syndrome