Repeated transmission of X-linked ocular albinism type 1 by a carrier oocyte donor

William N. Burns, M. Vittoria Schiaffino, Richard Alan Lewis

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)1169-1172
Number of pages4
JournalFertility and Sterility
Volume70
Issue number6
DOIs
Publication statusPublished - Dec 1998

Keywords

  • In vitro fertilization
  • Oocyte donor
  • X-linked ocular albinism

ASJC Scopus subject areas

  • Obstetrics and Gynaecology

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