[Familial translocation t(3;22) detected in a carrier child with mental retardation and other abnormalities].
A case of familial translocation t(3;22) (q21;q13) detected through a boy carrier with various functional and phenotypical alterations is described. The caryotype study (G bands) showed that the mother, one maternal aunt, two maternal uncles, and the brother of the proband were likewise carriers of the same translocation. We discuss the type of segregation and the high familial incidence of the translocation.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002900:Chromosomes, Human, 1-3 / Q000648:ultrastructure*; D002904:Chromosomes, Human, 21-22 and Y / Q000648:ultrastructure*; D006580:Genetic Carrier Screening; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D010375:Pedigree; D014178:Translocation, Genetic
Translocación familiar t(3;22) detectada a través de un niño portador con retraso mental y otras anomalías.