Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor.
OBJECTIVE
To report the transmission of unsuspected X-linked ocular albinism in an oocyte donor program.


METHODS
Case report.


METHODS
University medical center.


METHODS
A 24-year-old white female oocyte donor and the outcomes of three recipient pregnancies.


METHODS
Clinical assessment and molecular diagnostic tests.


METHODS
Mutation detection.


RESULTS
Demonstration of carrier status and multiple transmissions of a mutant allele.


CONCLUSIONS
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.
Burns
W N
WN
Department of Obstetrics and Gynecology, University of Texas Health Science Center at San Antonio, USA.
Schiaffino
M V
MV
Lewis
R A
RA
D000328:Adult; D016117:Albinism, Ocular / Q000235:genetics*; D005260:Female; D006580:Genetic Carrier Screening; D008040:Genetic Linkage; D006801:Humans; D011247:Pregnancy; D011256:Pregnancy Outcome; D014019:Tissue Donors; D014960:X Chromosome