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- W1533072580 abstract "Before considering the approaches to Preimplantation Genetic Diagnosis (PGD) it is important to have a clear understanding of the genetic basis of inherited disease. Inherited disease may be caused by mutation or loss of a single gene or by chromosomal rearrangement carried by a parent which leads to the production of genetically unbalanced gametes. A newly emerging category of disorders that presents particular problems for PGD is those that are caused by a variable increase in the number of copies of a particular trinucleotide repeat sequence (i.e. three base pairs, for example, cytosine, guanine, guanine-CGG-and their paired bases on the opposite DNA strand) within the vicinity of a gene. This chapter includes: gene mutation Mendelian inheritance of single gene disorders autosomal recessive (autosomal dominant, X-linked inheritance) polygenic inheritance chromosomal rearrangements (chromosomal translocations, insertions, inversions, ring chromosomes) aneuploidy and gonadal mosaicism triplet repeat disorders (fragile X syndrome, myotonic dystrophy, Huntington's disease) conclusion." @default.
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- W1533072580 date "2001-05-01" @default.
- W1533072580 modified "2023-09-30" @default.
- W1533072580 title "Genetic Basis of Inherited Disease" @default.
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- W1533072580 doi "https://doi.org/10.1002/0470846615.ch2" @default.
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