We have collected over 200 nuclear families (mother, father and Child) with undiagnosed multiple congenital anomaly syndrome. Our approach is to use molecular techniques to detect submicroscopic duplications and deletions. The analysis of the specimens is incomplete although we have already found a number of abnormalities.By screening with microsatellite markers, we have found five chromosomal aberrations that were not detected by microscopic techniques. The study was closed to further accrual last year to allow completion of the analysis of the current specimens.
| 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 |
