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Recurrent Trisomies: Chance or Inherited Predisposition?
1Presbyterian Laboratory Services, Presbyterian Healthcare System, Charlotte, NC. Janet E. Ulm, Perinatal Diagnostic Center, Charlotte, NC, 28204, jeu1@phsc.com.
Abstract:
Two patients experiencing recurring trisomic pregnancies involving a different chromosome each time are presented. Mechanisms to explain recurrent trisomies include a gene or genes predisposing to nondisjunction in general or to nondisjunction of the acrocentric chromosomes, maternal age effects, and germ-line mosaicism. Genetic counseling is complicated by the lack of a clear explanation for the recurrences, difficulty in quoting a specific recurrence risk, concern regarding the risk for uniparental disomy, and the frustration, grief and guilt reactions of the patients.
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