Genomic Study of Congenital Malformation
试验速览
- 阶段
- 不适用
- 入组人数
- 900
- 试验地点
- 1
研究概览
简要总结
Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology will be identified using high-density oligonucleotide array.
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Family Based
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •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.
排除标准
- •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.