Double independent balanced translocation in a girl with mild phenotypical stigmata.
A case of de novo double independent balanced translocation t(1;7)(q44;q22), t(8;10)(q22;q26) in a girl with mild phenotypical stigmata is reported. Beside hyposomia with retarded bone age and slightly dysmorphic ear, no other abnormality was detectable and the psychomotor development was normal. A review of the similar casuistry in literature is made.
D002675:Child, Preschool; D002900:Chromosomes, Human, 1-3; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D007621:Karyotyping; D014178:Translocation, Genetic