FISH and PCR analysis of the presence of Y-chromosome sequences in a patient with Xq-isochromosome and testicular tissue

Authors: Álvarez-Nava, Francisco; Martínez, María C; González, Sandra; Soto, Marisol; Borjas, Lisbeth; Rojas, Alicia

Source: Clinical Genetics, Volume 55, Number 5, May 1999 , pp. 357-362(6)

Publisher: Blackwell Publishing

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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.

Keywords: FISH; PCR; SRY; testicular development; Xq-isochromosome

Document Type: Research article

DOI: 10.1034/j.1399-0004.1999.550510.x

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