Saethre-Chotzen/Williams-Beuren Combination Probe

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.

Size

5 Tests, 10 Tests

Label

Red/Green

Locus

7p21.1/7q11.23

Specificity

Human

Usage

For Research Use Only. Not for use in diagnostic procedures.

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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