Genomic Study of Congenital Malformation
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.
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.