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In EFE2, the mutated gene is located on the X chromosome, but its precise location is not known.Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y.The numbered bands specify the location of the thousands of genes that are present on each chromosome.Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother.Males have one X and one Y chromosome and females have two X chromosomes.Each chromosome has a short arm designated “p” and a long arm designated “q”.
Others cases are thought to be inherited as an X-linked recessive genetic trait.
The risk for two carrier parents to both pass the defective gene and, therefore, have an affected child is 25% with each pregnancy.