X chromosome | Y chromosome | Philadelphia chromosome | polytene chromosome | Human Y-chromosome DNA haplogroup | An inversion loop in the A arm of a chromosome from an ''Axarus |
It is due to mutations in the Bifunctional 3'-phosphoadenosine 5'-phosphosulfate synthetase 2 (PAPSS2) gene which is located on the long arm of chromosome 10 (10q22-q24).