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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1980) Lauritsen (1976) Warburton et al. , 1980). , 1977). From these data it has been estimated that triploidy occurs in about 1% of recognized human conceptions, but is observed in only one of 10,000 livebirths. Cytogenetic Studies. According to the constitution of the gonosomes, three types oftriploidies are distinguished (Table XIV): 69,XXY, the most frequent; 69,XXX; and 69,XYV, which has been rarely observed. The small number of abortuses with 69,XYV constitution may be explained by the fact that this karyotype leads to very early developmental arrest and that such cells do not grow well in tissue culture (A.

One issue remains open: the loss of the maternal haploid set. It may be lost before or at the time of penetration of the spermatozoon or at the time of the first mitotic division. Since studies on the mechanisms of triploidy have shown the existence of maternal nonreduction at the first or second meiotic division producing a diploid oocyte, the counterpart may exist giving a diploid polar body and an anucleate oocyte. The recent study of Wallace et al. (1982) shows that complete moles contain exclusively maternal mitochondrial DNA, suggesting the fertilization of a mature anucleate ovum.

6c), to the type of monosomy predetermined by the choice of the special double Rb heterozygous combination in one of the parents. This system comprises Balanced double metacentnc heterozygote \! : f"\. /' ~ orregular 1 unbalanced A ~- ~. X..... : ~ y .. : t : : X 1------ Segregation ~ I I I @ orregular unbalanced regular balanced .... J xX x 1\ /\ Fig. 6. Breeding design for induction of (a) monosomy and (b) trisomy by nondisjunction of partially homologous Rb metacentric chromosomes. Both (a) and (b) are frequent types of unbalanced segregation products.

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