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Saethre-Chotzen/Williams-Beuren Combination Probe
- Specification
Cat.No.
FMDC-35
Description
Saethre-Chotzen is one of the most frequent syndromes in congenital malformation. It is characterized by craniofacial and limb abnormalities and the incidence of this rare syndrome is estimated at between 1 in 25-50,000 live births. This autosomal dominant disorder is one of the most difficult to detect, and the identification of the causative gene TWIST1, a transcription factor on chromosome band 7p21.1, has proved invaluable for the detection.
Williams-Beuren Syndrome (WBS) is a developmental disorder caused by a microdeletion within band 7q11.23. WBS displays connective tissue problems; typically supravalvular aortic stenosis (SVAS), growth retardation, renal anomalies, transient hypercalcaemia, hyperacusis and mental retardation. Haploinsufficiency of the elastin (ELN) gene has been identified as being responsible for SVAS.
Williams-Beuren Syndrome (WBS) is a developmental disorder caused by a microdeletion within band 7q11.23. WBS displays connective tissue problems; typically supravalvular aortic stenosis (SVAS), growth retardation, renal anomalies, transient hypercalcaemia, hyperacusis and mental retardation. Haploinsufficiency of the elastin (ELN) gene has been identified as being responsible for SVAS.
Size
5 Tests, 10 Tests
Label
Red/Green
Specificity
Human
Locus
7p21.1/7q11.23
Usage

Storage
Store at minus 20 centigrade
Citation Guidance
If you use this products in your scientific publication, it should be cited in the publication as: Creative Bioarray cat no. If your paper has been published, please click here to submit the PubMed ID of your paper to get a coupon.
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