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Recurrent Trisomies: Chance or Inherited Predisposition?
Author(s) -
Ulm Janet E.
Publication year - 1999
Publication title -
journal of genetic counseling
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.867
H-Index - 52
eISSN - 1573-3599
pISSN - 1059-7700
DOI - 10.1023/a:1022842931704
Subject(s) - nondisjunction , uniparental disomy , genetic counseling , genetics , human genetics , aneuploidy , chromosome , medicine , psychology , biology , gene , karyotype
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.