Evaluation of Patients With Unresolved Chromosome Abnormalities

NCT00001639 | Completed

• 2 other identifiers: 97004597-HG-0045
• Study Type: observational
• Target: 263
• Locations: 1 country
• Sites: 1

Brief Summary

The purpose of this research is to study a new way to test for chromosome abnormalities. Chromosomes are strands of DNA (the genetic material in the cell nucleus) that are made up of genes-the units of heredity. Chromosome abnormalities are usually investigated by staining the chromosomes with a dye (Giemsa stain) and examining them under a microscope. This method can detect many duplications and deletions of pieces of chromosomes and is very accurate in diagnosing certain abnormalities. It is not useful, however, for identifying very small abnormalities. This study will evaluate the accuracy of a test method using 24 different dyes for finding small chromosome abnormalities. Children and adults with various chromosome abnormalities may be eligible for this study, including, for example, people with developmental delay or mental retardation, abnormal growth features or growth retardation, and certain behavioral disorders. Participants will be evaluated in the clinic over a 1- to 3-day period, depending on their symptoms. All participants will be examined by a genetics specialist and will have a physical examination and possibly X-rays, computerized tomography (CT) scans, magnetic resonance imaging (MRI), ultrasound studies and medical photography. Blood will be drawn for chromosome testing-about 3 tablespoons from adults and 1 to 3 teaspoons from children. When the test results are available, participants will return to the clinic for follow-up evaluation and review of the test findings. The genetic and medical evaluations, along with their implications, will be discussed.

Conditions

Abnormalities; Failure to Thrive; Mental Retardation; Microcephaly

Keywords

Gene Dosage; Haploinsufficiency; Karyotype; Malformations; Mental Retardation

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)

Physical anomalies or developmental anomalies. Karyotype showing derivative chromosome abnormality that is not fully characterized. No abnormal parental karyotype. No prenatal specimens. Probands of all ages, genders, and ethnic origin are eligible. The proband must have a non-mosaic abnormal G-banded chromosome analysis of good quality that shows one or more derivative chromosomes whose foreign component cannot be determined by standard G-banding techniques. The parents should also have G-banded chromosome analysis prior to eligibility for consent 2. If this has not been done by the referring physician, it may be done as part of the protocol. The proband with the abnormal karyotype should have one or more of the following features: dysmorphic features; developmental delay or mental retardation; growth retardation, microephaly, short stature or failure to thrive; behavioral disorder Biological parents must be willing to supply a blood specimen. If they have any of the features listed above, they must attend the clinic if the proband is to be eligible. The proband must be evaluated by the NCHGR clinical genetics service by the PI, a co-investigator, or his associates. Mothers will be queried about potential non-paternity. If non-paternity is possible, the family will need to undergo clinical paternity evaluation before they are enrolled in the study.

Contact the study team to discuss eligibility requirements. They can help determine if this study is right for you.

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (1)

National Human Genome Research Institute (NHGRI)

Bethesda, Maryland, 20892, United States

Location

MeSH Terms

Conditions

Congenital Abnormalities; Failure to Thrive; Intellectual Disability; Microcephaly

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Neurobehavioral Manifestations; Neurologic Manifestations; Nervous System Diseases; Neurodevelopmental Disorders; Mental Disorders; Craniofacial Abnormalities; Musculoskeletal Abnormalities; Musculoskeletal Diseases; Malformations of Cortical Development, Group I; Malformations of Cortical Development; Nervous System Malformations

Study Design

• Study Type: observational
• Sponsor Type: NIH

Study Record Dates

• First Submitted: November 3, 1999
• First Posted: December 10, 2002
• Study Start: December 1, 1996
• Study Completion: October 1, 2000
• Last Updated: March 4, 2008

Record last verified: 1999-10

Locations

US (1)