By Charles J. Epstein
This ebook considers intimately the mechanisms of a tremendous human challenge. Chromosome imbalance impacts all phases of existence in methods starting from spontaneous abortion and retardation to behavioural difficulties and malignancy. Charles J. Epstein issues himself with how and why a selected chromosome imbalance produces a selected phenotype. His basic aim is to attach chromosome aberrations with sensible abnormalities when it comes to gene expression, developmental and cellphone biology, and metabolism. via his exam of this courting, we research extra approximately common improvement and serve as. The booklet starts with an exploration of numerous human autosomal aneuploid phenotypes, with specific emphasis at the courting among genotype and phenotype. within the subsequent half, large theoretical issues of the mechanisms which generate those phenotypes are tested with regards to stories on guy and different organisms akin to micro organism and mice. Experimental techniques to review the results of aneuploidy are awarded subsequent with detailed awareness paid to the improvement of version platforms for learning human aneuploidy.
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