Clinical, Cytogenetic, and Molecular Studies in Patients with Contiguous Gene Deletion Syndromes
Data Collection
Congenital Abnormalities+45
+ Abnormalities, Multiple
+ Aortic Valve Disease
Summary
Study start date: September 1, 1999
Actual date on which the first participant was enrolled.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.
Protocol
This section provides details of the study plan, including how the study is designed and what the study is measuring.20 patients to be enrolled
Total number of participants that the clinical trial aims to recruit.Eligibility
Researchers look for people who fit a certain description, called eligibility criteria: person's general health condition or prior treatments.Any sex
Biological sex of participants that are eligible to enroll.Healthy volunteers not allowed
If individuals who are healthy and do not have the condition being studied can participate.Conditions
Pathology
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
Study Centers
These are the hospitals, clinics, or research facilities where the trial is being conducted. You can find the location closest to you and its status.This study has 1 location