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Revista Cubana de Pediatría
versão impressa ISSN 0034-7531versão On-line ISSN 1561-3119
Resumo
VINAS PORTILLA, Carlos I. et al. Síndrome de Down: A propósito de 2 familias portadoras de translocación 14;21. Rev Cubana Pediatr [online]. 1999, vol.71, n.1, pp.43-48. ISSN 0034-7531.
Down syndrome is the most frequent chromosomic anomaly in humans. 2 families carriers of translocation 14;21 with affected children are presented in this paper. Cytogenetic studies were conducted with the utilization of the culture microtechnique to have a diagnosis. A segregated analysis of the carriers was made. It was confirmed the existance of translocation in 4 numbers of 3 generations in the first family, and in 3 members of 2 generations in the second family. The results are discussed and it is stressed the importance of detecting carriers, mainly those at reproductive age.
Palavras-chave : TRANSLOCATION (GENETICS); DOWN SYNDROME.