Trisomy 12p due to an adjacent 1 segregation of a maternal reciprocal translocation t(12;18) (p11;q23).
A 5, 9-12-year-old with trisomy 12 pdue to a maternal reciprocal translocation adjacent 1 segregation is presented. Comparison of his phenotype with that of other patients reported in the literature confirm the existence of a trisomy syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002906:Chromosomes, Human, 6-12 and X; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D014178:Translocation, Genetic; D014314:Trisomy