Cíntia Barros Santos , Giancarlo Discepoli , Francesco Pigliapoco , Raquel Boy , Márcia Mattos Gonçalves Pimentel
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De novo balanced translocation (2;10)(q24;q22) associated with mental retardation
We report a case of a reciprocal translocation between the long arms of the 2 and 10 chromosomes observed in a 14-year-old male with mild mental impairment, compulsive and obsessive behavior. The apparently balanced translocation was characterized by fluorescence in situ hybridization and the karyotype was 46, XY, t(2;10)(q24;q22). The way by balanced chromosomal translocations can lead to a disease phenotype are reviewed and discussed.
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