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Detection of Y chromosome sequences in a 45,X/46,XXq– patient by Southern blot analysis of PCR‐amplified DNA and fluorescent in situ hybridization (FISH)

1995; Wiley; Volume: 55; Issue: 4 Linguagem: Inglês

10.1002/ajmg.1320550418

1096-8628

Mirjana Kočova, Selma F. Siegel, Sharon L. Wenger, Peter A. Lee, Michael A. Nalesnik, Massimo Trucco,

Chromosomal and Genetic Variations

Abstract In some cases of gonadal dysgenesis, cytogenetic analysis seems to be discordant with the phenotype of the patients. We have applied techniques such as Southern blot analysis and fluorescent in situ hybridization (FISH) to resolve the phenotype/genotype discrepancy in a patient with ambiguous genitalia in whom the peripheral blood karyotype was 45,X. Gonadectomy at age 7 months showed the gonadal tissue to be prepubertal testis on the left side and a streak gonad on the right. The karyotype obtained from the left gonad was 45,X/46,XXq‐ and that from the right gonad was 45,X. Three different techniques, PCR amplification, FISH, and chromosome painting for X and Y chromosomes, confirmed the presence of Y chromosome sequences. Five different tissues were evaluated. The highest percentage of Y chromosome positive cells were detected in the left gonad, followed by the peripheral blood lymphocytes, skin fibroblasts, and buccal mucosa. No Y chromosomal material could be identified in the right gonad. Since the Xq‐ chromosome is present in the left gonad (testis), it is likely that the Xq‐ contains Y chromosomal material. Sophisticated analysis in this patient showed that she has at least 2 cell lines, one of which contains Y chromosomal material. © 1995 Wiley‐Liss, Inc.