| Goal: | The goal of this database is to provide geneticists, genetic counselors, other healthcare professionals and researchers with detailed and accurate information regarding specific telomere rearrangements. A complete database will not only aid in the counseling of families regarding phenotype and prognosis, but will also assist investigators in defining genotype/phenotype correlations. |
| Cases: | We are interested in collecting information on cases with telomere rearrangements from two categories: 1) individuals with telomere rearrangements that have a causative effect resulting in his/her phenotype, and
2) individuals with a telomere rearrangement that has been proven to be inherited from a normal parent, and therefore, is not associated with any phenotype (i.e. a benign variant). |
| Submit a case: | Please provide information for as many fields as possible. Periodic updates to previously submitted cases are also appreciated. |
| Disclaimer: | All cases will be reviewed routinely by the database curator before inclusion into the online database. |
| Questions? | Please direct all questions to telomere@genetics.uchicago.edu. |
