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Study of Phenotype and Genotype Correlations in Patients With Contiguous Gene Deletion Syndromes

NCT00004351 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 20

Last updated 2005-06-24

No results posted yet for this study

Summary

OBJECTIVES: I. Investigate phenotype and genotype correlations in patients with Smith-Magenis syndrome (SMS) associated with del(17p11.2).

II. Clinically evaluate SMS patients with unusual deletions or duplication of proximal 17p.

III. Clinically evaluate patients with Williams syndrome with molecular characterization of 7q11.23.

IV. Perform clinical studies of Prader-Willi, Angelman, DiGeorge, and Shprintzen syndrome patients with unique molecular findings in 15q11q13 or 22q11.2.

V. Perform genotype and phenotype correlations in Prader-Willi patients, particularly those with loss of expression of only some of the imprinted transcripts in 15q11-q13.

VI. Evaluate putative Angelman syndrome patients who do not have classic large deletion, uniparental disomy, or imprinting mutations, and perform molecular studies of the Angelman gene, UBE3A, and identify mutations of this gene.

VII. Investigate phenotype and genotype correlations in patients with terminal deletions of chromosome 1p.

Conditions

Sponsors & Collaborators

  • Baylor College of Medicine

    collaborator OTHER

  • National Institute of Neurological Disorders and Stroke (NINDS)

    lead NIH

Principal Investigators

  • James R. Lupski · Baylor College of Medicine

Eligibility

Min Age
0 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
1999-09-30

Countries

  • United States

Study Locations

More Related Trials

Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00004351 on ClinicalTrials.gov