Congenital pulmonary alveolar proteinosis
Congenital pulmonary alveolar proteinosis is a rare lung disease in humans. The disease is caused by a recessive mutation in the gene CSF2RA. CSF2RA is located within a pseudoautosomal region of the X and Y chromosomes. The normal allele is notated as Cnorm, and the mutant allele is notated as Cmut.
Suppose that a woman with Cnorm on both X chromosomes (XCnormXCnorm) has children with a man with Cmut on the X chromosome and Cnorm on the Y chromosome (XCmutYCnorm).

