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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This is shown for the brain in Fig. 9. , in trisomy 1 (see Fig. lOb), 6, 10, or 12. Several trisomies with survival until the later fetal stages very often exhibit more or less severe subcutaneous edema and cavital hydrops with first appearance around day 15. Observations from trisomy 19 show that the edematous changes can disappear in the final prenatal period or at least by the neonate stage (Gropp, 1982). Another major developmental disorder is gross malformation. In the Chapter 1: Cytogenetics of Pregnancy Wastage 45 Fig.

3. It is also possible that there is an interaction of these factors. Mosaicism Different cytogenetic surveys of spontaneous abortions, induced abortions, and perinatal deaths have reported different incidences of mosaicism. Comparison of these results has also been possible with mosaic trisomies (Hassold 1982). 6% (1. , 1980a). The distribution of the extra chromosomes involved is similar in nonmosaic and mosaic trisomies, trisomy 16 being the most frequent. , the number of cells analyzed; others are related to the type of material in spontaneous abortion studies.

The data of Hassold (1982) suggested that the extra chromosome in mosaic trisomies has a meiotic origin, the normal line developing after fertilization. In the mosaic trisomy group the mothers have the same mean maternal age as the mothers of the nonmosaic trisomic specimens. 2. The process leading to mosaicism does not occur with the same frequency among the different trisomies (Stene and Warburton, 1981). 30 Andre Boue, Jollie Boue, and Alfred Gropp The frequency of mosaicism is elevated among nonacrocentric trisomies (37 of 409 trisomic abortuses, 9%), and is very unusual among the acrocentric trisomies (one in 229 trisomic abortuses) (Hassold, 1982).

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