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Chromosome Abnormalities clinical trials

View clinical trials related to Chromosome Abnormalities.

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NCT ID: NCT02884063 Completed - Clinical trials for Genetic Diseases, Inborn

Utilizing Free DNA in Embryo Culture for PGT

Start date: May 2015
Phase:
Study type: Observational

In the way for developing and optimizing protocol to be used as non- invasive methodology used as routine testing for PGS. This protocol is to be adapted to replace the using of life embryo cells for genetic testing and aneuploidy study as well as for any type of genetic testing including single gene disorder or HLA typing or study.

NCT ID: NCT00006445 Active, not recruiting - Down Syndrome Clinical Trials

Down Syndrome - Comparison of Screening Methods in the 1st and 2nd Trimesters

Start date: n/a
Phase: N/A
Study type: Interventional

Too much or too little genetic information (chromosome material) can cause abnormal development of the fetus or death. Each year approximately 2.5 million pregnant women are screened for Down Syndrome using invasive screening methods (amniocentesis or chorionic villus sampling). This 11 center study of 38,000 women will compare the accuracy of the several non-invasive tests in the first and second trimesters of pregnancy versus amniocentesis or diagnosis at birth to diagnose aneuploidy or Down Syndrome.

NCT ID: NCT00005102 Recruiting - DiGeorge Syndrome Clinical Trials

Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome

Start date: January 1995
Phase: N/A
Study type: Observational

OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints. III. Determine presence of sustained immunologic compromise in older patients.

NCT ID: NCT00004351 Completed - Clinical trials for Prader-Willi Syndrome

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

Start date: September 1999
Phase: N/A
Study type: Observational

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.