Abstract
Sex chromosome numerical and structural alterations not alweys can be detectable or evaluated by cytogenetic means. The aim was to study the sex chromosomes with X-Y DNa probes by Southern blot and SRY gene (sex region of Y chromosome) by PCR (polymerase chain reaction). BOP 34 and pDP 105 probes were used for DNA hybridization genomic DNA from patients and female and male controls were studied by both techniques. Five patients were analyzed: a)2 Turner's Syndrome, XO/Xr(X o Y?), b)1 XX male, c)l X, idic (Yq12) male, d)1 dysgenetic male pseudchermaphrodite XO/XY/Xr(Y?)r(Y?).
Molecular data are sJxwi in the following table:
These results suggest the advantage to perform techniques to identify sex chromosome specific sequences in uncertain cytogenetic diagnosis in order to obtain a better clinical nanagement in gonadal dysgenesis.
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Copelli, S., Targovnik, H., Del, G. et al. 10 MOLECULLAR STUDIES OF SEX CHROMOSOMES ALTERATICNS IN GONDAL DYSGENESIS PATTIENTS. Pediatr Res 32, 250 (1992). https://doi.org/10.1203/00006450-199208000-00033
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DOI: https://doi.org/10.1203/00006450-199208000-00033