title: FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue.
abstract: Mixed gonadal dysgenesis includes a heterogeneous group of different chromosomal, gonadal, and phenotypic abnormalities, characterized by the presence of a testis on one side and streak or an absent gonad on the other, persistence of müllerian duct structures and/or wolffian derivatives, and a variable degree of genital ambiguity. Here, we describe a patient with virilized external genitalia and phenotypic features of Turner syndrome, whose blood karyotype was 45,X/46,X,i(Xq). The presence of a unilateral dysgenetic testis was confirmed by histopathology. Using fluorescence in situ hybridization (FISH) and polymerase chain reaction (PCR)-based analysis to detect Y-specific sequences, Y-chromosome material was not detected. To date, this is the first case reported of Xq-isochromosome associated with the presence of testicular tissue.
authors.affiliation: Unidad de Genética Médica, Facultad de Medicina, Universidad del Zulia, Maracaibo, Venezuela. f.marfan@iamnet.com
authors.forename: F
authors.initials: F
authors.lastname: Alvarez-Nava
authors.forename: M C
authors.initials: MC
authors.lastname: Martínez
authors.forename: S
authors.initials: S
authors.lastname: González
authors.forename: M
authors.initials: M
authors.lastname: Soto
authors.forename: L
authors.initials: L
authors.lastname: Borjas
authors.forename: A
authors.initials: A
authors.lastname: Rojas
mesh_terms: D000293:Adolescent; D005260:Female; D006059:Gonadal Dysgenesis; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D008677:Metaphase; D016133:Polymerase Chain Reaction; D013737:Testis / Q000473:pathology; D014960:X Chromosome; D014998:Y Chromosome