RESUMO
Mos 45,X/46,X,r(?) in 4 patients with Turner's syndrome and no signs of virilization, and in one pair of monozygotic twins, one of them with clitoral hypertrophy, was studied using combined cytogenetic techniques and specially G-11 staining for the characterization of the X or Y origin of the rings. In all 6 patients the ring was G-11 positive, attesting its Y origin. Both twins were operated and bilateral streak gonads with a bilateral nodule of testicular tissue were found. Similar small rings were also studied in one patient with mos 46,XX/46,X,r(X) and in one nonvirilized Turner's syndrome patient with a larger ring; in these two cases the ring was G-11 negative. It seems that the small rings occasionally found in Turner's syndrome are more frequently from Y origin and therefore prophylactic gonadectomy should be considered.
Assuntos
Mosaicismo , Síndrome de Turner/genética , Cromossomo X , Adolescente , Adulto , Criança , Bandeamento Cromossômico , Feminino , Humanos , Cariotipagem , Masculino , Aberrações dos Cromossomos Sexuais , Coloração e Rotulagem , Cromossomo YRESUMO
A pair of monozygotic twins with Turner's syndrome was studied using combined cytogenetic techniques and a mos 45,X/46,X,r(Y) was demonstrated in both. One of the twins presented clitoral hypertrophy. Surgery was performed and uterus, bilateral Fallopian tubes, bilateral epididymis and bilateral streak gonads with a small nodule of testicular tissue containing numerous seminiferous tubules were found in both.
