title: A case of (X;15) translocation diagnosed as a paracentric inversion of Xp: diagnostic revision with FISH.
abstract: In 1990 we reported the case of a 17 years old girl with growth retardation, overweight and primary amenorrhea, presenting a de novo chromosomal rearrangement cytogenetically characterized as a paracentric inversion of the short arm of X chromosome. The FISH analyses that were recently performed, revealed that in fact our patient presented a case of unbalanced translocation, 46,X, t(X;15)(p11.2; q15).
authors.affiliation: Division of Medical Genetics, Geneva University Hospital, C.M.U, 1 rue Michel-Servet, 1211 4, Geneva, Switzerland.
authors.forename: A
authors.initials: A
authors.lastname: Paoloni-Giacobino
authors.forename: J
authors.initials: J
authors.lastname: Lespinasse
authors.forename: I
authors.initials: I
authors.lastname: Moix
authors.forename: S P
authors.initials: SP
authors.lastname: Dahoun
mesh_terms: D000328:Adult; D007446:Chromosome Inversion; D002884:Chromosomes, Human, Pair 15; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D013577:Syndrome; D014178:Translocation, Genetic; D014424:Turner Syndrome / Q000175:diagnosis; D014960:X Chromosome