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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1978). 31 Chapter 1: Cytogenetics of Pregnancy Wastage Table XIX. 2 6 8 9 14 16 89 14 6 7 89 • European studies. Antich et al. (1980), Matton et al. (1980), Geraedts and Klasen (1980), Bortotto et al. (1980), Turleau et al. (1979), Subrt (1980), Sachs (1980), Stoll et al. (! 980), Schmid (1980). The analysis of the frequency of the different types of structural anomalies in these couples compared to the frequency in newborn surveys shows a 20-fold increase of these anomalies. Different types of rearrangement are involved in this increase (Table XX).

A similar increase has been observed in perinatal death surveys (Table XVIII). In a series of 37 unbalanced rearrangements observed in abortuses, about one-half were inherited and the other half appeared de novo (J. Boue and Boue, 1973a). 2. Cytogenetic studies of couples with recurrent abortion. Table XIX shows the results of different European surveys of couples with two or more spontaneous abortions. 2% of these couples. Table XVIII. 5 From Jacobs (198Ia). Data from Machin and Crolla (1974), Kuleshov (1976), Sutherland et al.

I 2 3 4 t 5 6 Implantation 7 8 9 10 " ,2 '3 '4 15 16 17 18 19 20 t Fig. 13. Critical and vulnerable phases (grey) in relation to developmental profiles of monosomies and trisomies (see Fig. 7). It may be meaningful to propose three main critical phases that determine the eventual downward course in the development of mono~ so my and trisomy (Fig. 13). A first and second phase of increased devel~ opmental vulnerability coincide roughly with the periods of implantation and organogenesis, respectively, the first of which selecting in particular against monosomies.

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