A case of (X;15) translocation diagnosed as a paracentric inversion of Xp: diagnostic revision with FISH.
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).
Paoloni-Giacobino
A
A
Division of Medical Genetics, Geneva University Hospital, C.M.U, 1 rue Michel-Servet, 1211 4, Geneva, Switzerland.
Lespinasse
J
J
Moix
I
I
Dahoun
S P
SP
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