" /> 46,xy sex reversal 10 - CISMeF





Preferred Label : 46,xy sex reversal 10;

Symbol : SRXY10;

CISMeF acronym : SRXY10;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 17q24 deletion syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by deletion of a 32.5-kb regulatory region (XYSR) -640 to -607 kb upstream of the SRY-box-9 gene (SOX9, 608160.0018);

Neoplasia : Gonadal germ cell tumors (in some patients);

Prefixed ID : #616425;

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01/10/2025


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