title: Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor.
abstract: 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.
authors.affiliation: Department of Obstetrics and Gynecology, University of Texas Health Science Center at San Antonio, USA.
authors.forename: W N
authors.initials: WN
authors.lastname: Burns
authors.forename: M V
authors.initials: MV
authors.lastname: Schiaffino
authors.forename: R A
authors.initials: RA
authors.lastname: Lewis
mesh_terms: 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