Recurrent Trisomies: Chance or Inherited Predisposition?

Autor: Ulm, Janet E.
Zdroj: Journal of Genetic Counseling; April 1999, Vol. 8 Issue: 2 p109-117, 9p
Abstrakt: 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.
Databáze: Supplemental Index