title: The Pallister-Killian syndrome in an African individual.
abstract: We report for the first time an individual of Zulu origin with the Pallister-Killian syndrome. Apart from the commonly reported clinical signs, he also had frenula in all four quadrants of the mouth. A broad, short hallux was present. An unusually high level of mosaicism for the isochromosome 12p was found in the lymphocytes.
authors.affiliation: Department of Human Genetics, School of Pathology, South African Institute for Medical Research.
authors.forename: B F
authors.initials: BF
authors.lastname: Woodman
authors.forename: M A
authors.initials: MA
authors.lastname: Jordan
authors.forename: L I
authors.initials: LI
authors.lastname: Moller
authors.forename: J D
authors.initials: JD
authors.lastname: Cartwright
authors.forename: T J
authors.initials: TJ
authors.lastname: De Ravel
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000353:Africa, Southern; D000782:Aneuploidy; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics; D018404:Isochromosomes; D008297:Male; D009030:Mosaicism; D013577:Syndrome