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Prevention of birth defects due to chromosomal aberrations


, : Prevention of birth defects due to chromosomal aberrations. Anales de la Real Academia de Farmacia 59(2): 159-170

From a preventive point of view and in relation to genetic counseling, different aspects concerning the significance of chromosomal factors in the origin of some deficiencies are presented. Data are given on the frequency of some chromosomopathies drawn from different human populations, both at cytogenetic and molecular levels, are discussed. Moreover, recent data on the genotypephenotype map of chromosome 21 in Down syndrome are given. Finally, the possibility of a relationship between chromosomal heteromorphisms and reproductive failure is evaluated.

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