title: Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome.
abstract: Ambras syndrome (AMS) is a unique form of congenital universal hypertrichosis. The syndrome has been found in association with rearrangements of chromosome 8 in two isolated cases. One of these patients was reported to have an apparently balanced paracentric inversion of chromosome 8, inv(8)(q12q22). Our cytogenetic analysis on this patient showed that the rearrangement of chromosome 8 is more complex than initially reported. We detected an insertion of the q23-q24 region into a more proximal region of the long arm of chromosome 8 as well as a large deletion in 8q23:46,XX, rea(8)(8pter-->8q13::8q23.2-->8q24.1::8q13-->8q23.1::8q24.1-->8qter). Given the large number of breakpoints and the presence of a substantial deletion, it is surprising that the proposita did not show anomalies other than these characteristic of Ambras syndrome.
authors.affiliation: Department of Genetics and Development, Columbia University, New York, New York 10032, USA.
authors.forename: M
authors.initials: M
authors.lastname: Tadin
authors.forename: E
authors.initials: E
authors.lastname: Braverman
authors.forename: S
authors.initials: S
authors.lastname: Cianfarani
authors.forename: A J
authors.initials: AJ
authors.lastname: Sobrino
authors.forename: B
authors.initials: B
authors.lastname: Levy
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
authors.forename: D
authors.initials: D
authors.lastname: Warburton
mesh_terms: D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D020732:Cytogenetic Analysis; D005260:Female; D006801:Humans; D006983:Hypertrichosis / Q000235:genetics* / Q000473:pathology; D017404:In Situ Hybridization, Fluorescence; D009693:Nucleic Acid Hybridization; D000091402:Prohibitins