Abstract
The objective was to compare the impact of gonadal cell line upon the phenotype of a Turner syndrome patient with mosaic karyotypes. A 10-year-old female presented with typical Turner syndrome. Chromosomal analysis of lymphocytes revealed 45,X (16%)/46,X,pseudodicentric Y (p ter→q12::q12→p ter) (84%). Karyotype of the gonads revealed 45,X (85%)/46,X,pseudodicentric Y (p ter→q12::q12→p ter) (15%). Discrepancy of the individual cell lines between the lymphocytes and the tissue might exist. The phenotype of patients with mosaicism is related with the individual proportions of gonadal cell lines.
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REFERENCES
Hassold T, Benham F, Leppert M: Cytogenetic and molecular analysis of sex-chromosome monosomy. Am J Hum Genet 1988;42:534-541
Hsu LYF, Paciuc S, David K, Cristian S, Moloshok R, Hirschhorn K: Number of C-bands of human isochromosome Xqi and relation to 45 X mosaicism. J Med Genet 1978;15:222-226
Hsu LYF: Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 1994;53:108-140
Tuck-Muller CM, Chen H, Martinez JE, Shen CC, Li S, Kusyk C, Batista DA, Bhatnagar YM, Dowling E, Wertelecki W: Isodicentric Y chromosome: Cytogenetic, molecular and clinical studies and review of the literature. Hum Genet 1995;96:119-129
Morava E, Hermann R, Czako M, Soltesz G, Kosztolanyi G: IsodicentricYchromosome in an Ullrich-Turner patient without virilization. Am J Med Genet 2000;91:99-101
Berkowitz GD: Abnormalities of gonadal determination and differentiation. Semin Perinatol 1992;16:289-298
Mendez JP, Ulloa-Aruirre A, Kofman-Alfaro S, Mutchinick O, Femandez-del-Castillo C, Reyes E, Perez-Palacios G: Mixed gonadal dysgenesis: Clinical, cytogenetic, endocrinological and histopathological findings in 16 patients. Am J Med Genet 1993;46:263-267
Papenhauser PR, Mueller OT, Berru B, Salazar J, Tedesco TA: Cell lone segregations in 45,X/46,XY mosaic child with asymmetric leg growth. Clin Genet 1991;40:237-241
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Hsieh, YY., Lin, WC., Chang, CC. et al. Turner Syndrome with Pseudodicentric Y Chromosome Mosaicism. J Assist Reprod Genet 19, 302–303 (2002). https://doi.org/10.1023/A:1015737515898
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DOI: https://doi.org/10.1023/A:1015737515898