The ATRX/CCPX FISH Probe Kit is designed to detect the human ATRX gene located on chromosome band Xq21.1, along with the number of chromosome X copies per cell.
Abnormalities in ATRX – also known as ATR2, JMS, MRX52, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP or ZNF-HX – occur in alpha-thalassemia mental retardation syndrome, which a disorder characterized by severe psychomotor retardation, facial dysmorphism, urogenital abnormalities, and alpha-thalassemia.
An essential phenotypic trait is hemoglobin H erythrocyte inclusions.
