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Hot Products
DiGeorge TUPLE 1/SHANK3 Probe
- Specification
- Q & A
- Customer Review
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

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.
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