dup(X)(p)

Epidemiology and Etiology:

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Common sites:

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Gross features:

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Histologic features:

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Immunophenotype:

Marker:

Sensitivity:

Specificity:

Molecular features:

· DAX1 (DSS) (Xp21.3)

· Dosage-sensitive sex reversal gene

· Overexpression (ex. as a result of being duplicated) results in male-to-female sex reversal (female phenotype in a 46,XY individual)

· Too much DAX1 product displaces WT1 from its association with SF1

· The testis-inducing influences of SRY and SOX9 are thus inhibited

Other features:

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References:

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