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Genomic Study of Congenital Malformation

The recruitment status of this study is unknown. The completion date has passed and the status has not been verified in more than two years.
Verified November 2010 by China Medical University Hospital.
Recruitment status was:  Recruiting
Academia Sinica, Taiwan
Information provided by:
China Medical University Hospital Identifier:
First received: November 29, 2010
Last updated: NA
Last verified: November 2010
History: No changes posted
Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology will be identified using high-density oligonucleotide array.

Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology

Study Type: Observational
Study Design: Observational Model: Family-Based
Time Perspective: Retrospective
Official Title: Genomic Study of Congenital Malformation

Further study details as provided by China Medical University Hospital:

Estimated Enrollment: 900
Study Start Date: June 2010
Detailed Description:

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.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology

Inclusion Criteria:

  1. Subject is diagnosed as congenital malformation/syndromes.
  2. Participants can be any ages, and both males and females are eligible.
  3. Subjects agree and are capable of giving informed consent. If participants are under 18 years old or incapable of giving consent, an informed consent must be approved by their legal guardians.
  4. Availability and willingness of the proband and first-degree biological family (parents, full sibling, or adult-age offspring) who also meets the same congenital malformation syndrome.
  5. Availability and willingness of the proband's biological parents whatever with or without the same congenital malformation syndrome.

Exclusion Criteria:

  1. Subject or legal guardian is unable to understand or give informed consent.
  2. The molecular cause for congenital malformation/syndromes of subjects or their affected first-degree biological family (parents, full sibling, or adult-age offspring) can be revealed by karyotype assay or FISH.
  Contacts and Locations
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Please refer to this study by its identifier: NCT01250613

China Medical University Hospital Recruiting
Taichung, Taiwan, 406
Contact: Fuu-Jen Tsai, PHD    886-4-22052121 ext 2107   
Sponsors and Collaborators
China Medical University Hospital
Academia Sinica, Taiwan
  More Information

Responsible Party: Fuu-Jen Tsai, China Medical University Hospital Identifier: NCT01250613     History of Changes
Other Study ID Numbers: DMR99-IRB-037
Study First Received: November 29, 2010
Last Updated: November 29, 2010

Additional relevant MeSH terms:
Congenital Abnormalities processed this record on April 28, 2017