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- W184668051 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." @default.
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- W184668051 date "2010-01-01" @default.
- W184668051 modified "2023-09-27" @default.
- W184668051 title "A familial reciprocal translocation t(1;15) in three generations identified in a regular trisomy 21 patient." @default.
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