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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Thus, the use of the Rb mouse model for meiotic nondisjunction induced by structural heterozygosity shows (1) variability of rates depending on the composition of the rearranged chromosome, (2) considerably higher rates in female versus male heterozygous carriers of the same Rb chromosome, and (3) a phenomenon of meiotic drive, which leads in the mouse, in contrast to man, to a higher representation of the rearranged chromosome in the progeny. Table XXVI. 11 )8Bnr Rb( 4. 15)IA1d 36 36 49 51 38 40 46 49 26 36 33 28 38 40 47 39 271 154 132 154 151* 110 125 48 52 52 52 59 54 49 52 48 48 48 41 46 51 93 124 191 78 214* 96 114 103 44 48 43 42 88 44 43 44 56 52 53 58 12 56 57 56 a See 1\ Percent homozygous n I\V 64 64 51 49 62 60 54 51 74 64 67 72 62 60 53 61 261* 83* 108 160 89* 120* 107 142 62* 67* 126* 99* 181* 102* 98 103* Gropp and Winking (1981).

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. Evidence for a third, presumably continuous critical phase (Fig.

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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