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DiGeorge TUPLE 1/SHANK3 Probe
- Specification
Cat.No.
FMDC-13
Description
DiGeorge syndrome, and a variety of congenital malformation syndromes including Velocardiofacial (VCFS) and Conotruncal Anomaly Face syndromes, share the phenotypic features covered by the acronym CATCH22 (Cardiac defects; Abnormal facies; Thymic hypoplasia; Cleft palate; Hypocalcaemia) and deletion of chromosome 22 at 22q11.2.
The 22q13.3 deletion syndrome presents a recognisable phenotype characterised by hypotonia, delay or absence of expressive speech, moderate to profound mental retardation, normal to accelerated growth and mild dysmorphic features.
Size
5 Tests, 10 Tests
Label
Red/Green
Specificity
Human
Locus
22q11.2/22q13.3
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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