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

National Institutes of Health (NIH) logo

National Institutes of Health (NIH)

Status

Completed

Conditions

Smith-Magenis Syndrome
DiGeorge Syndrome
Prader-Willi Syndrome
Angelman Syndrome
Shprintzen Syndrome
Williams Syndrome
Chromosome Abnormalities

Study type

Observational

Funder types

Other
NIH

Identifiers

NCT00004351
199/11914
BCM-H4299

Details and patient eligibility

About

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.

Full description

PROTOCOL OUTLINE: Patients undergo clinical, cytogenetic, and molecular studies. These include radiographic, neurologic, developmental, and 24 hour sleep studies, ophthalmologic, otolaryngologic, speech and language, and audiologic exams, echocardiogram, and renal ultrasound. Smith-Magenis patients are also evaluated with the following: urine melatonin levels during day and night hours; anthropometrics; sleep and behavioral history; and renal, immunologic, and cholesterol studies. A clinical and phenotypic map is constructed. When appropriate, parental chromosome analysis is performed.

Sex

All

Volunteers

No Healthy Volunteers

Inclusion and exclusion criteria

PROTOCOL ENTRY CRITERIA:

--Disease Characteristics-- Contiguous gene deletion syndrome, e.g.: Smith-Magenis syndrome Williams syndrome DiGeorge syndrome Shprintzen syndrome (velo-cardio-facial syndrome) Prader-Willi syndrome Angelman syndrome Deletion of chromosome 1p Patient age: Any age

Trial contacts and locations

1

Loading...

Data sourced from clinicaltrials.gov

Clinical trials

Find clinical trialsTrials by location
© Copyright 2024 Veeva Systems