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Chromosome variation and genetic counseling - 20 years of experience in Brazil

Cleonice J. Geiger; F.M. Salzano; Margarete S. Mattevi; Bernardo Erdtmann; F.J. da Rocha

Departamento de Genética, Instituto de Biociências, Universidade Federal do Rio Grande do Sul, Caixa Postal 1953, 90001 Porto Alegre, RS, Brasil. Send correspondence to F.M.S.

ABSTRACT

Information about the karyotypes of 552 individuals is provided and compared with similar data collected previously from 1,380 persons. The results were examined according to type of ascertainment, and more detailed consideration was given to those derived from clinical referrals. Two periods of time were compared (1965-1979 and 1980-1985), and some differences were observed between them in the prevalences of sex chromosome abnormalities, as well as in certain types of autosome trisomy and structural rearrangements. Four translocations (1;3, 1;18, 9;11, 5;X) that may have conditioned reproductive problems in their carriers are described in detail.

Keywords: chromosome; variation; genetic; counseling.

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