Clinical trial NCT01250613: Genomic Study of Congenital Malformation
Official title: Genomic Study of Congenital Malformation
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Genomic Aberrations in Patients Diagnosed as Congenital Malformation With Unknown Etiology
Lead sponsor: China Medical University Hospital
Sponsor class: OTHER
Collaborators: name: Academia Sinica, Taiwan
First posted: 2010-12-01
Enrollment: 900
Sex: ALL
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: RETROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology

Brief summary: Genomic aberrations in patients diagnosed as congenital malformation with unknown etiology will be identified using high-density oligonucleotide array.

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.

Eligibility criteria: 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.

Primary outcomes:
Secondary outcomes:
Other outcomes:
Locations:
city: Taichung
country: Taiwan
facility: China Medical University Hospital
Study officials:
References: