W N Burns1, M V Schiaffino, R A Lewis. 1. Department of Obstetrics and Gynecology, University of Texas Health Science Center at San Antonio, USA.
Abstract
OBJECTIVE: To report the transmission of unsuspected X-linked ocular albinism in an oocyte donor program. DESIGN: Case report. SETTING: University medical center. PATIENT(S): A 24-year-old white female oocyte donor and the outcomes of three recipient pregnancies. INTERVENTION(S): Clinical assessment and molecular diagnostic tests. MAIN OUTCOME MEASURE(S): Mutation detection. RESULT(S): Demonstration of carrier status and multiple transmissions of a mutant allele. CONCLUSION(S): We describe the transmission of a mutant allele for X-linked ocular albinism from an unsuspected carrier female oocyte donor to three independent pregnancies. We emphasize the need for diligent inquisition to clarify any unusual history of ocular or constitutional signs that might signify an X-linked disorder.
OBJECTIVE: To report the transmission of unsuspected X-linked ocular albinism in an oocyte donor program. DESIGN: Case report. SETTING: University medical center. PATIENT(S): A 24-year-old white female oocyte donor and the outcomes of three recipient pregnancies. INTERVENTION(S): Clinical assessment and molecular diagnostic tests. MAIN OUTCOME MEASURE(S): Mutation detection. RESULT(S): Demonstration of carrier status and multiple transmissions of a mutant allele. CONCLUSION(S): We describe the transmission of a mutant allele for X-linked ocular albinism from an unsuspected carrier female oocyte donor to three independent pregnancies. We emphasize the need for diligent inquisition to clarify any unusual history of ocular or constitutional signs that might signify an X-linked disorder.
Authors: Raquel H Barbosa; Fernando R Vargas; Evandro Lucena; Cibele R Bonvicino; Héctor N Seuánez Journal: BMC Med Genet Date: 2009-07-29 Impact factor: 2.103