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首页> 外文期刊>Proceedings of the National Academy of Sciences of the United States of America >Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination
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Loss of sequences 3' to the testis-determining gene, SRY, including the Y pseudoautosomal boundary associated with partial testicular determination

机译:睾丸决定基因SRY的3'序列丢失,包括与部分睾丸确定相关的Y假常染色体边界

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摘要

The condition termed 46,XY complete go- nadal dysgenesis is characterized by a completely female phenotype and streak gonads. In contrast, subjects with 46,XY partial gonadal dysgenesis and those with embryonic testic- ular regression sequence usually present ambiguous genitalia and a mix of Mullerian and Wolffian structures. In 46,XY partial gonadal dysgenesis gonadal histology shows evidence of incomplete testis determination. In 46,XY embryonic tes- ticular regression sequence there is lack of gonadal tissue on both sides.
机译:被称为46,XY完全性腺发育不全的疾病的特征是完全女性表型和条带性腺。相比之下,患有46,XY部分性腺发育不全的受试者和具有胚胎睾丸退化序列的受试者通常表现出生殖器模棱两可,并混有穆勒式和沃尔夫式结构。在46,XY部分性腺发育不全的性腺组织学显示睾丸测定不完全的证据。在46,XY胚胎的手性退化序列中,两侧都没有性腺组织。

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