Featured Products
- EUB338 Probe
- WCP 1 FISH Probe
- WCP 2 FISH Probe
- WCP 5 FISH Probe
- WCP 7 FISH Probe
- WCP 11 FISH Probe
- WCP 17 FISH Probe
- WCP Y FISH Probe
- Mouse Chromosome 2 Point Probe
- Mouse Chromosome 4 Point Probe
- Mouse Chromosome 5 Point Probe
- Mouse Chromosome 9 Point Probe
- Mouse Chromosome 11 Point Probe
- Mouse Chromosome 12 Point Probe
- Mouse Chromosome 14 Point Probe
- Mouse Chromosome 15 Point Probe
- Mouse Chromosome 16 Point Probe
- Mouse Chromosome 18 Point Probe
Our Promise to You
Guaranteed product quality, expert customer support
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
Locus
22q11.2/22q13.3
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.
- Q & A
- Customer Review
Ask a Question
Write your own review
ONLINE INQUIRY
