HUM-MOLGEN DIAGnostics/Clinical Research

17 June 1997

SPECTRAL KARYOTYPING OF SMALL CHROMOSOMAL REARRANGEMENTS

The National Human Genome Research Institute is recruiting subjects for spectral karyotype analysis. This technique uses combinatorial labeling by fluorescent dyes and computer spectral analysis to detect small chromosomal aberrations. The study involves a pre-enrollment record review. Eligible subjects will be offered a paid trip to Bethesda for clinical evaluation and specimen collection.

The eligibility criteria include:
1. Proband has an abnormal karyotype, usually a derivative chromosome for which the translocated material is of unknown origin. Both parents have been karyotyped and the source of the material is still not clear.
2. The proband has some phenotypic abnormality (dysmorphic, medical, developmental, or behavioral) that is judged to be due to segmental aneusomy.
3. The subject and both parents are willing to participate and the subject and at least one parent are willing to travel to Bethesda.

Principal Investigators:
Leslie Biesecker, M.D., 301-402-2041, Email: leslieb@helix.nih.gov
Thomas Ried, Ph.D., 301-594-3118, Email tried@nhgri.nih.gov
49 Convent Dr. Room 4A80
Bethesda, MD 20892

If you have a patient who you think may be eligible for this study please contact the Study Coordinator:

Ann C. M. Smith, MA, CGC, 301-402-2011 Email: acmsmith@nhgri.nih.gov

Medical Genetics Branch, NHGRI

10 Center Drive, MSC 1267

Bldg 10, Room 3D53

Bethesda, MD 20892-1267

301-402-2011

Email: acmsmith@nhgri.nih.gov