A familial reciprocal translocation t(1;15) in three generations identified in a regular trisomy 21 patient
Journal
Genetic Counseling
Date Issued
2010
Author(s)
García-Delgado, C.
Bahena-Martínez, E.
Aparicio-Onofre, A.
Guevara-Yañez, R.
Cervantes-Peredo, A.
Azotla-Vilchis, O. C.
Luna-Angulo, Alexandra
Villa-Morales, J.
Morrán-Barroso, V. F.
Type
Resource Types::text::journal::journal article
URL
Abstract
The concurrence of a reciprocal translocation and an aneuploidy represent a rare coincidence and an interchromosome effect between these two events has been suggested. We report the case of a family with a t(1;15) in three generations which was identified through the evaluation ofa patient with classical trisomy 21 or Down syndrome. The cytogenetic analysis with GTG banding showed that the proband had a regular trisomy 21 and a balanced translocation t(1;15). FISH and microsatellite analysis were carried out in the family in order to discard an interchromosomal effect. The implications for genetic assessment are discussed. © Genetic Counseling