Genomic imprinting and uniparental disomy in medicine : by Eric Engel, Stylianos E. Antonarakis

By Eric Engel, Stylianos E. Antonarakis

Eric Engel and Stylianos Antonarakis have written the main authoritative and important reference on molecular and medical facets of uniparental disomy (UPD) and genomic imprinting thus far. Genomic Imprinting and Uniparental Disomy in drugs positive factors entire overviews of a large number of genetic issues associated with UPD, with a robust emphasis on scientific effects. This ebook will supply readers with the instruments essential to establish and deal with ailments linked to nontraditional chromosomal inheritance.

Genomic Imprinting and Uniparental Disomy in medication gains convenient tables summarizing medical phenotypes and chromosomal involvement in UPD, in addition to transparent illustrations on imprinting mechanisms and diagnostic checking out. This authoritative, thoroughly up to date functional reference may be important for any medical geneticist, genetic counselor, health care provider, or researcher encountering sufferers with such problems or learning complicated ailment mechanisms.

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Extra info for Genomic imprinting and uniparental disomy in medicine : clinical and molecular aspects

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Although the examples of translocations discussed below are not many, each one serves to illustrate a particular facet of its theoretical or clinical interest. Case 1 When unbalanced segregation of the t(15;22) of case 1 included the der(22) with deletion 15 for a segment pter-q13 [without the complementary der(15)], the resulting imbalance, when originating from the father caused PWS in two children, while it produced AS when transmitted from his balanced daughter to her child. , 1991). , unequal crossing-over and 15q11-q13 deletion, accounting for the PWS offspring of one brother, and nondisjunction and UPD15, causing AS in the child born to the other brother!

Lerman, L. S. and Maniatis, T. Detection of single base substitutions in total genomic DNA. Nature 313:495–498, 1985. , et al. Variable number of tandem repeat (VNTR) markers for human gene mapping. Science 235:1616–1622, 1987. Newton, C. , Heptinstall, L. , et al. Analysis of any point mutation in DNA. The amplification refractory mutation system (ARMS). Nucleic Acids Res 17:2503–2516, 1989. Nickerson, D. , Taylor, S. , Weiss, K. , et al. 7-kb region of the human lipoprotein lipase gene [see comments].

1991). , unequal crossing-over and 15q11-q13 deletion, accounting for the PWS offspring of one brother, and nondisjunction and UPD15, causing AS in the child born to the other brother! , 1992). , 1993). 5, causing biparental expression. , 1996) in prenatal diagnosis. In both situations, amniocentesis, performed because of the paternal translocations involving chromosome 15, revealed a normal 46,XY karyotype and absence of the translocation, which in both cases had involved the PWS critical region of 15q.

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