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Record 1,  Textual support,  English

Record number: 1, Textual support number: 1 CONT

A Novel Mutation in the Sex Determining Region on Y (SRY) Gene as an Etiology of Familial Swyer Syndrome. Swyer Syndrome (SWY) is a failure of testicular differentiation that results in 46,XY sex reversed females. Unlike sporadic SWY, familial cases of SWY appear to be transmitted through 46,XX carrier females and maybe due to X-linked or autosomal genes downstream from SRY in the sexual differentiation cascade. Carriers of a mutation in SRY would be expected to be affected with SWY and be sterile. This report describes two siblings with SWY who have been previously found to have a normal SRY gene with polymerase chain reaction (PCR)  4, record 1, English, - sex%20determining%20region%20on%20Y

Record 1,  Textual support,  French

Record number: 1, Textual support number: 1 DEF

Gène du chromosome Y qui joue un rôle important dans la détermination du sexe.  4, record 1, French, - g%C3%A8ne%20SRY

Record 1,  Textual support,  Spanish