Resumo

MORALES PERALTA, Estela; VINAS PORTILLA, Carlos; PEREZ GIARDINU, Jeorges  e  COLLAZO MESA, Teresa. TURNER'S PHENOTYPE ASSOCIATED WITH RING Y CHROMOSOME. Rev Cubana Pediatr [online]. 2005, vol.77, n.1, pp. 0-0. ISSN 1561-3119.

Turner's syndrome is a disease typically affecting females. In our paper, we describe a patient with its main signs. His karyotype was 46, Xr(Y)/45,X. This mosaicism is explained by the instability of the chromosomic ring leading to its loss after mitosis. By molecular tests, including the identification of SRY and AM-XY genes, we obtained the usual results found in males. According to these findings, we can conclude that the genetical material lost as part of the process of formation of the chromosomic ring is distal to Y p 11.3. This shows that the anti-Turner genes are located in this pseudoautosomal region.

Palavras-chave : Turner's syndrome; Y chromosome; ring chromosome.