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FISH and PCR analysis of the presence of Y‐chromosome sequences in a patient with Xq‐isochromosome and testicular tissue
Author(s) -
ÁlvarezNava Francisco,
Martínez María C,
González Sandra,
Soto Marisol,
Borjas Lisbeth,
Rojas Alicia
Publication year - 1999
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.1999.550510.x
Subject(s) - isochromosome , biology , gonad , karyotype , y chromosome , fluorescence in situ hybridization , x chromosome , testis determining factor , histopathology , genetics , chromosome , pathology , microbiology and biotechnology , anatomy , gene , medicine
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.