Genomic Study of Congenital Malformation
研究概览
详细说明
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.
研究类型
注册 (预期的)
联系人和位置
学习地点
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Taichung、台湾、406
- 招聘中
- China Medical University Hospital
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接触:
- Fuu-Jen Tsai, PHD
- 电话号码:2107 886-4-22052121
- 邮箱:d0704@www.cmuh.org.tw
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参与标准
资格标准
适合学习的年龄
- 孩子
- 成人
- 年长者
接受健康志愿者
有资格学习的性别
取样方法
研究人群
描述
Inclusion Criteria:
- Subject is diagnosed as congenital malformation/syndromes.
- Participants can be any ages, and both males and females are eligible.
- 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.
- 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.
- Availability and willingness of the proband's biological parents whatever with or without the same congenital malformation syndrome.
Exclusion Criteria:
- Subject or legal guardian is unable to understand or give informed consent.
- 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.
学习计划
研究是如何设计的?
设计细节
合作者和调查者
研究记录日期
研究主要日期
学习开始
研究注册日期
首次提交
首先提交符合 QC 标准的
首次发布 (估计)
研究记录更新
最后更新发布 (估计)
上次提交的符合 QC 标准的更新
最后验证
更多信息
与本研究相关的术语
其他相关的 MeSH 术语
其他研究编号
- DMR99-IRB-037
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