Abstract

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 protocol is currently closed to further accrual and will be phased out. - pediatric research, mental retardation, genetics, clinical research - Human Subjects

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Intramural Research (Z01)
Project #
1Z01HG000091-04
Application #
6290306
Study Section
Special Emphasis Panel (GDRB)
Project Start
Project End
Budget Start
Budget End
Support Year
4
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
National Human Genome Research Institute
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

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