Advances in Human Genetics 14 - download pdf or read online

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

ISBN-10: 1461594006

ISBN-13: 9781461594000

ISBN-10: 1461594022

ISBN-13: 9781461594024

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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. , 1981; Gropp, 1982).

5% of the triploidies were associated with another 21 Chapter 1: Cytogenetics of Pregnancy Wastage chromosome error), confirm the high frequency of chromosome errors in human zygotes. The origin of the supernumerary set of chromosomes results from different mechanisms: chromosome nonreductions either in the first or in the second maternal meiotic division (digyny), or in the first or in the second paternal meiotic division (diandry), or dispermy. It has been possible to document these mechanisms using different approaches: (1) XYY sex chromosome complement indicates an extra set of paternal origin, the possible mechanisms being either diandry (meiosis II) or dispermy; (2) heteromorphic fluorescent regions in some chromosomes have been used as markers, first by Uchida and Lin (1972) and Jonasson et al.

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. (1978). 31 Chapter 1: Cytogenetics of Pregnancy Wastage Table XIX.

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

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