Deletion 9pandsex reversal

We reportacaseofafemaleinfant witha denovodeletion oftheshortarm ofchromosome 9,sexreversal, andan apparentlyintact SRY gene.Sexreversal has beenreportedina number ofsubjects withanormalY chromosomeandadeletionoftheterminal segmentoftheshort arm ofchromosome9.Thefactors controlling earlydevelopment ofthemale testesareunknown.Therearelikely to bemany genesinvolved andwe present additional evidence thatoneoftheseis situated on theendoftheshortarm of chromosome9. (JMedGenet1993;30:518-20) Theprimary eventinthedetermination of maleandfemale sexisdependent onthepresenceorabsence ofthesexdetermining region oftheY chromosome (SRY).1 Sexreversal has beenreported inanumberofsubjects withaY chromosome anda terminal deletion ofthe shortarmofchromosome9.2-6 Thesecases involved translocation ofchromosome 9with otherchromosomes andtherefore theywere trisomic forpartofanother chromosome in addition tobeingmonosomic forterminal 9p. We report acaseofasexreversed female infant withadenovodeletion ofthedistal short arm ofchromosome 9,sexreversal, andanapparently intact SRYgene.