Genomic Study of Congenital Malformation
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|ClinicalTrials.gov Identifier: NCT01250613|
Recruitment Status : Unknown
Verified November 2010 by China Medical University Hospital.
Recruitment status was: Recruiting
First Posted : December 1, 2010
Last Update Posted : December 1, 2010
|Condition or disease|
|Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology|
The Affymetrix GeneChip® Human Mapping SNP 6.0 array, includes more than 900,000 SNP probes plus more than 900,000 CNV probes in a single chip, can provide high density makers information for the human genome. The median inter-marker distance is 670 bases and the average inter-marker distance is 1.67 kb, and the resolution can be as high as 200 kb. The Affymetrix® Cytogenetics Whole-Genome 2.7M Array gives the greatest power to detect known and novel chromosome aberrations across the entire genome. In addition, the whole-genome array includes 400,000 single nucleotide polymorphisms (SNPs) to enable the detection of loss of heterozygosity (LOH), uniparental disomy (UPD), and regions identical-by-descent.
If we are able to identify the candidate genomic regions that are associated with the congenital malformation/syndrome, we may have a better chance to understand the pathogenesis of congenital malformation/syndrome as well as the mechanisms underlying the abnormal chromosome rare diseases. The results from this study can also facilitate the clinical diagnosis and provide genetic basis for consultation.
|Study Type :||Observational|
|Estimated Enrollment :||900 participants|
|Official Title:||Genomic Study of Congenital Malformation|
|Study Start Date :||June 2010|
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01250613
|China Medical University Hospital||Recruiting|
|Taichung, Taiwan, 406|
|Contact: Fuu-Jen Tsai, PHD 886-4-22052121 ext 2107 email@example.com|