dosage-sensitive sex reversal

Genetics

• XY individuals with partial duplication of chromosome X short arm including the NR0B1 gene (SRY gene intact)
• the single X chromosome in these individuals does not undergo X-chromosome inactivation thus, these individuals presumably carry 2 active copies of genes, including the NR0B1 gene, in the duplicated region

More general terms

• genetic disease of the urogenital system

Database

• OMIM: https://mirror.omim.org/entry/300018