Resumen

QUESADA DORTA, Marlén; BELLO ALVAREZ, Daisy; GONZALEZ FERNANDEZ, Pedro  y  CABRERA RODE, Eduardo. Frequency of chromosomal aberrations in subjects with gonosomopathies: Experience in 19 years of work. Rev Cubana Endocrinol [online]. 2004, vol.15, n.2. ISSN 1561-2953.

This paper was aimed at determining the frequency of chromosomal aberrations in a group of patients carriers of gonosomopathies and at relating in each case the meaning of the different chromosomal aberrations found to the patients' clinical diagnosis. 656 patients with presumptive diagnosis of gonosomopathies from different hospital institutions of the country that were received at the mollecular genetics laboratory of "Hermanos Ameijeiras" Clinical and Surgical Hospital from 1982 to 2001, were studied. Of the total of patients with presumptive diagnosis of gonosomopathies, in 32.7 % (215/656) the clinical diagnosis was confirmed by the cytogenetic study. The chromosomal study was conducted by using G band techniques. The chromosomal rearrangements found were classified into 4 groups. The group of numerical gonosomopathies showed the highest frequency with 110 patients, accounting for 51 % of the total. It was followed by the group of numerical and structural alterations (mosaics) with 59 patients (27.0), the inversions of sex with 24 patients (12.0), and the group of structural gonosomopathies with 22 patients (10.0) The most common chromosomal aberrations were the numerical gonosomopathies (Turner and Klinefelter's syndrome). The chromosomal study in these patients is a very important diagnostic value indicator for the therapeutical conduct to be followed in every case.

Palabras clave : Gonosomopathies; isochromosome; mosaicism.