DELETION 9P AND SEX REVERSAL

We report a case of a female infant with a de novo deletion of the sho rt arm of chromosome 9, sex reversal, and an apparently intact SRY gen e. Sex reversal has been reported in a number of subjects with a norma l Y chromosome and a deletion of the terminal segment of the short arm of chromosome 9. The factors controlling early development of the mal e testes are unknown. There are likely to be many genes involved and w e present additional evidence that one of these is situated on the end of the short arm of chromosome 9.