Protocols to Establish Genotype-Phenotype Correlations in Down Syndrome.
| Number | 773 |
|---|---|
| Year | 1991 |
| Drawer | 14 |
| Entry Date | 11/08/1999 |
| Authors | Fowler, A., Epstein, Charles, J. et al. |
| Contact | |
| Publication | Am. J. Hum. Genet., 49, 207-235. |
| url | http://www.haskins.yale.edu/Reprints/HL0773.pdf |
| Abstract | [Introduction] Progress in the genetic and physical mapping of chromosone 21 has now reached the point at which it is possible to being the correlation of the phenotypic components of Down syndrome with imbalance of specific regions of the components of the chromosome. Several preliminary efforts in this direction have already been made and suggest that the phenotypic and molecular analysis of relatively rare individuals with chromosome 21 duplications (“partial trisomy”) can be used to specify which regions of chromosone 21 are involved in the generation of specific components of the phenotype (see below). The ultimate goal of correlating genotype with phenotype (phenotypic mapping) is to make it possible to discover which particular genes are responsible for which aspects of the phenotype, thereby permitting the pathogenesis of the syndrome to be elucidated and, it is hoped, its most serious consquences to be prevented or ameliorated. To facilitate the process of making a phenotypic map of Down syndrome, a workshop was sponsored by the National Institute of Child Health and Human Development on April 24-25, 1990, to develop protocols for obtaining and recording the necessary phenotypic, cytogenetic, and molecular data. It is anticipated that these protocols will provide the basis for analyzing and comparing the phenotypes and genotypes of individuals with differenct duplications involving the long arm of chromosone 21. The protocols which have been developed were designed to provide a uniform and precise specification of the phenotype and degree of chromosome imbalance of each individual to be studied. Although they are not intended for use in the diagnosis or investigation of Down syndrome per se, these protocols should nonentheless prove useful for these purposes and possibly for the care of persons with Down syndrome. |
| Notes |
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