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.
Santos
Cíntia Barros
CB
Departamento de Biologia Celular e Genética, Instituto de Biologia Roberto Alcântara Gomes, Universidade do Estado do Rio de Janeiro, Rua São Francisco Xavier 524, PHLC, sala 218, Maracanã, 20550-013 Rio de Janeiro, Brazil. cbs@alternex.com.br
Discepoli
Giancarlo
G
Pigliapoco
Francesco
F
Boy
Raquel
R
Pimentel
Márcia Mattos Gonçalves
MM
D000293:Adolescent; D002879:Chromosomes, Human, Pair 10; D002889:Chromosomes, Human, Pair 2; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000209:etiology / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D014178:Translocation, Genetic