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SEX DETERMINING REGION Y [1 record]

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Record 1 1999-10-05

English

Subject field(s)
  • Genetics
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)

French

Domaine(s)
  • Génétique
DEF

Gène du chromosome Y qui joue un rôle important dans la détermination du sexe.

Spanish

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