A familial reciprocal translocation t(1;15) in three generations identified in a regular trisomy 21 patient

García-Delgado, C.; Bahena-Martínez, E.; Aparicio-Onofre, A.; Guevara-Yañez, R.; Cervantes-Peredo, A.; Azotla-Vilchis, O. C.; Estrada Mena, Francisco Javier; Luna-Angulo, Alexandra; Villa-Morales, J.; Morrán-Barroso, V. F.

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

https://scripta.up.edu.mx/handle/20.500.12552/2436

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