Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor.
作者信息
Burns W N, Schiaffino M V, Lewis R A
机构信息
Department of Obstetrics and Gynecology, University of Texas Health Science Center at San Antonio, USA.
出版信息
Fertil Steril. 1998 Dec;70(6):1169-72. doi: 10.1016/s0015-0282(98)00387-2.
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.
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