description) The objective of this application is to utilize molecular genetic approaches to better understand the relationship between deletions in the short arm of chromosome 9 and phenotypic abnormalities associated with its disorder. The investigator proposes to carry out molecular characterization of 9p deletion syndrome patients and examine its molecular karyotype / phenotype correlations.
| Christ, L A; Crowe, C A; Micale, M A et al. (1999) Chromosome breakage hotspots and delineation of the critical region for the 9p-deletion syndrome. Am J Hum Genet 65:1387-95 |
