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- W2232952945 abstract "The concept of a syndrome was originally used to describe a constellation of findings that recurred from individual to individual without recognized underlying cause. Describing something as a syndrome is useful because it affords prognostic information about a patient with the constellation of findings. The approach to genetics was originally to classify recognizable patterns of congenital malformations and subsequently identify chromosomal abnormalities that were associated with them. This led to a focus on individual genes carried on chromosomes and identification of diseases arising from defects in individual genes. Knowledge of modes of inheritance based on the characteristics of the gene allowed prognostication about appearance of the disease in offspring of affected parents, and the acquired knowledge of mechanisms of disease offered new opportunities for therapeutic intervention. Modern molecular genetic methodologies use a reverse approach. The defective gene is identified first through techniques of gene mapping and then its effect on the biologic processes is elucidated. The techniques which allow gene mapping also allow synthesis of replacement fragments for defective genes and potentially their incorporation into the genetic matrix of the affected individual via recombinant DNA technology (genetic engineering). Future information on the results of these activities may reflect changes in the direction of medical knowledge and intervention as much as any other current research activity." @default.
- W2232952945 created "2016-06-24" @default.
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- W2232952945 date "1993-01-01" @default.
- W2232952945 modified "2023-09-24" @default.
- W2232952945 title "Genetic, Endocrine & Metabolic Disorders" @default.
- W2232952945 doi "https://doi.org/10.1007/978-1-4684-0450-0_4" @default.
- W2232952945 hasPublicationYear "1993" @default.
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