Advances in Human Genetics 14 by André Boué, Joëlle Boué, Alfred Gropp (auth.), Harry Harris,

By André Boué, Joëlle Boué, Alfred Gropp (auth.), Harry Harris, Kurt Hirschhorn (eds.)

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These are subject to selection in the pre- or postimplantation period. The principles of postzygotic selection working against abnormal products of meiotic errors in male and female gametogenesis are summarized in Fig. 4. Direct evidence for these principles is provided by a design of massive production of aneuploid gametes, both hypohaploid and hyperhaploid, using backcrosses of mouse hybrids heterozygous for a series of seven independent Rb metacentric chromosomes (Gropp, 1971; Ford, 1972). In this system an almost equal distribution of monosomy and trisomy is noted among the preimplantation embryos on day 4-4~ (Table XXVII).

Few data have been collected on chromosome inversions and their consequences on prenatal wastage. 36 units) than in the inversions ascertained through an infant with the unbalanced anomly (four families only; mean imbalance, 3 units). The structural anomalies responsible for recurrent abortions generally have a greater possible chromosome imbalance, which leads in most cases to early arrest of development. Combining different studies, Lippman-Hand and Vekemans (1983) showed that in couples with recurrent abortions, females are more likely than males to be carriers, reflecting the fact that structural rearrangements that are compatible with fertility in the female may be associated with sterility in the male.

For example, an increase of the incidence of Down syndrome among younger mothers was recently ,noticed (Anon, 1983) and some environmental factors were suspected. But, as pointed out by Polani (1983), the effect may be due to an increased rate of survival to term of trisomic fetuses; the incidence of trisomy 21 at conception may be unchanged and the shift could be due to a variety of factors affecting fetal well-being. The usefulness of an animal model for these studies is clearly demonstrated, and requires a selection of animals with structural rearrangements.

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