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  • Title: A familial reciprocal translocation t(1;15) in three generations identified in a regular trisomy 21 patient.
    Author: García-Delgado C, Bahena-Martínez E, Aparicio-Onofre A, Guevara-Yañez R, Cervantes-Peredo A, Azotla-Vilchis OC, Estrada-Mena J, Luna-Angulo A, Villa-Morales J, Moran-Barroso VF.
    Journal: Genet Couns; 2010; 21(3):299-306. PubMed ID: 20964121.
    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.
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