单词 | Gonadal Dysgenesis,46,XY |
释义 | Gonadal Dysgenesis,46,XY《英文msh词典》Gonadal Dysgenesis,46,XY [入口词] Gonadal Dysgenesis,46,XY [主题词] Gonadal Dysgenesis,46,XY [英文释义] This type of gonadal defect is characterized by a female phenotype,normal to tall stature,bilateral streak or dysgenetic gonads,and a 46,XY karyotype. This XY gonadal dysgenesis is a heterogenous condition with variant forms resulting from a structural abnormality on Y chromosome,a mutation in SRY gene or a mutation in autosomal genes. The syndrome is sometimes called pure gonadal dysgenesis,but this designation may also refer to gonadal dysgenesis with a 46,XX karyotype (GONADAL DYSGENESIS,46,XX). |
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