title: The Hunter-McAlpine syndrome results from duplication 5q35-qter.
abstract: In 1977 Hunter et al. J Med Genet 1977: 14 (6): 430-437, reported a family with six affected members, connected over three generations through unaffected individuals. Subsequently, several other patients purported to have the condition were reported. The condition became known as the Hunter-McAlpine syndrome, and there was debate as to whether or not it was identical to the Ruvalcaba syndrome or a type of tricho-rhino-phalangeal syndrome. In this article we confirm that the original family and a patient reported by Ades et al. Clin Dysmorphol 1993: 2 (2): 123-130 have cryptic translocations resulting in duplication of 5q35-qter. Similarities are noted between our patients and others in the literature with duplication of this chromosome segment.
authors.affiliation: Regional Genetics Program of Eastern Ontario, Ottawa, ON, Canada.
authors.forename: A G W
authors.initials: AG
authors.lastname: Hunter
authors.forename: B
authors.initials: B
authors.lastname: Dupont
authors.forename: M
authors.initials: M
authors.lastname: McLaughlin
authors.forename: L
authors.initials: L
authors.lastname: Hinton
authors.forename: E
authors.initials: E
authors.lastname: Baker
authors.forename: L
authors.initials: L
authors.lastname: Adès
authors.forename: E
authors.initials: E
authors.lastname: Haan
authors.forename: C E
authors.initials: CE
authors.lastname: Schwartz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000368:Aged; D001827:Body Height / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002895:Chromosomes, Human, Pair 5; D005145:Face / Q000002:abnormalities; D005192:Family Health; D005260:Female; D020440:Gene Duplication; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008831:Microcephaly / Q000235:genetics; D008875:Middle Aged; D010375:Pedigree; D013577:Syndrome; D014178:Translocation, Genetic