This project will use spectral karyotyping and whole genome microsatellite analysis to characterize chromosomal aberrations that cannot be characterized by light microscopic techniques. We will accrue patients with derivative chromosomes and abnormal phenotypic features and perform SKY analysis and microsatellite analysis. The project is on hold awaiting accrual of appropriate subjects.
| Slavotinek, A; Rosenberg, M; Knight, S et al. (1999) Screening for submicroscopic chromosome rearrangements in children with idiopathic mental retardation using microsatellite markers for the chromosome telomeres. J Med Genet 36:405-11 |
| Biesecker, L G; Happle, R; Mulliken, J B et al. (1999) Proteus syndrome: diagnostic criteria, differential diagnosis, and patient evaluation. Am J Med Genet 84:389-95 |
| Fuller, B P; Kahn, M J; Barr, P A et al. (1999) Privacy in genetics research. Science 285:1359-61 |
