Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology Clinical Trial
Official title:
Genomic Study of Congenital Malformation
Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology will be identified using high-density oligonucleotide array.
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.
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Observational Model: Family-Based, Time Perspective: Retrospective