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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
General
genetic disease of the urogenital system
Database Correlations
OMIM 300018
References
OMIM :accession 300018