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

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

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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. , 1981; Gropp, 1982). The origin of gross malformations, such as neural tube defects, cran~ iofacial anomalies, and cardiovascular disorders, falls into the second critical phase (Fig. 13). Stage-, time-, and strain~specific vulnerability of blastemas involved in morphogenesis, on the one hand, and systemic hypoplasia or excessive cell deficiency in specific blastemas, on the other hand, can explain the actual types and the variability of malformations as well as their limited specificity.

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).

Most partial moles are paternally derived triploids, and maternally derived triploids corresponding to digyny II are nonmolar. In correlation with these findings, the mean gestational age of triploid abortuses with two paternal sets of chromosomes is generally longer (122 ± 34 days) than in triploid abortuses with two maternal sets (74 ± 25 days). The placental pathological findings observed in both complete and partial moles correlate highly with the. , 1979). It is inter- 26 Andre Boue, Jo611e Boue, and Alfred Gropp esting to note that when explants of hydatidiform moles or of triploid chorionic tissues are grown in tissue culture it is possible to observe in vitro circlelike proliferation of cells starting from explants, reproducing, in a two-dimensional plane, the aspects of swelling villi (A.

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