Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]
| SKU | Test Kits | Buffer | Dye Color | Order Now |
|---|---|---|---|---|
| CECRBA-20-REGO | 20 (40 μL) | 200 μL |
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| CECRBA-20-REGR | 20 (40 μL) | 200 μL |
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| CECRBA-20-ORGR | 20 (40 μL) | 200 μL |
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| CECRBA-20-GOGR | 20 (40 μL) | 200 μL |
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| CECRBA-20-GRRE | 20 (40 μL) | 200 μL |
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| CECRBA-20-GROR | 20 (40 μL) | 200 μL |
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| CECRBA-20-GRGO | 20 (40 μL) | 200 μL |
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| CECRBA-20-AQOR | 20 (40 μL) | 200 μL |
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Cat eye syndrome (CES) is characterized clinically by the combination of coloboma of the iris and anal atresia with fistula, downslanting palpebral fissures, preauricular tags and/or pits, frequent occurrence of heart and renal malformations, and normal or near-normal mental development. A small supernumerary chromosome (smaller than chromosome 21) is present, frequently has 2 centromeres, is bisatellited, and represents an inv dup(22)(q11).[supplied by OMIM, Aug 2009]
Gene Symbol : CECR
Gene Name : Cat eye syndrome chromosome region
Locus : 22pter-q11
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