Chromosomal instability in a patient with ring chromosome 14 syndrome: a case report.
Juan Pablo Meza-EspinozaJuan Ramón González-GarcíaNayeli Nieto-MarínLiliana Itzel Patrón-BaroRosa María González-ArreolaEliakym Arámbula-MerazJulio Benítez-PascualAlberto Kousuke De la Herrán-AritaClaudia Desireé Norzagaray-ValenzuelaMarco Antonio Valdez-FloresTomás Adrián Carrillo-CázaresVerónica Judith Picos-CárdenasPublished in: Molecular cytogenetics (2024)
The clinical features of our patient closely resembled those observed in other individuals with ring chromosome 14 syndrome. The most important point was that we were able to verify an instability of the r(14) chromosome, mainly involving anaphasic lags and its exclusion from the nucleus in the form of a micronucleus.
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