A CASE OF 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT: CLINICAL, MOLECULAR AND CYTOGENETIC STUDIES

Draganescu D. Dinu; Militaru M.; Trifa A.

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A CASE OF 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT: CLINICAL, MOLECULAR AND CYTOGENETIC STUDIES

机译：46，XX条性发育障碍的病例：临床，分子和细胞遗传学研究

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摘要

Aim. To investigate the cause of infertility in an azoospermic man and to describe the phenotype of a new 46,XX male case.

机译：目标。调查无精症男性不育的原因，并描述新的46，XX男性病例的表型。

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《Acta endocrinologica: the international journal of the Romanian Society of Endocrinology》 |2015年第2期|共7页
作者
Draganescu D. Dinu; Militaru M.; Trifa A.;
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正文语种 eng
中图分类产科学;
关键词
46; XX testicular DSD; infertility; SRY gene; molecular analyses; FISH;

机译：46;XX睾丸DSD;不孕症;SRY基因;分子分析;FISH;

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1. A CASE OF 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT: CLINICAL, MOLECULAR AND CYTOGENETIC STUDIES [J] . Draganescu D. Dinu, Militaru M., Trifa A. Acta endocrinologica: the international journal of the Romanian Society of Endocrinology . 2015,第2期

机译：46，XX条性发育障碍的病例：临床，分子和细胞遗传学研究
2. Novel RSPO1 RSPO1 mutation causing 46,XX testicular disorder of sex development with palmoplantar keratoderma: A review of literature and expansion of clinical phenotype [J] . Tallapaka Karthik, Venugopal Vineeth, Dalal Ashwin, American journal of medical genetics, Part A . 2018,第4期

机译：新型RSPO1 RSPO1突变导致46，XX睾丸性发育症与棕榈术治疗方法：临床表型的文献和扩张综述
3. Disorders of Sex Development with Testicular Differentiation in SRY-Negative 46,XX Individuals: Clinical and Genetic Aspects [J] . Grinspon Romina P., Rey Rodolfo A. Sexual development: genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation . 2016,第1期

机译：SRY阴性的46，XX个人的睾丸分化性发育障碍：临床和遗传方面。
4. Development of Molecular Cytogenetic Resources for the Dog and Application to the Study of the Comparative Pathology of Canine Myeloid Neoplasms [C] . Matthew Breen Annual Meeting of the American Society for Veterinary Clinical Pathology . 2005

机译：犬分子细胞遗传学资源的开发及犬髓样肿瘤比较病理研究的应用
5. Development of papaya chromosome-specific cytogenetic markers and cytogenetic map of papaya sex chromosomes [D] . Wai, Ching Man 2011

机译：木瓜染色体特异性细胞遗传标志物的开发及木瓜性染色体的细胞遗传图谱
6. Clinical molecular and cytogenetic analysis of 46 XX testicular disorder of sex development with SRY-positive [O] . Qiu-Yue Wu, Na Li, Wei-Wei Li, 2014

机译：SRY阳性的46XX睾丸性发育障碍的临床分子和细胞遗传学分析
7. Clinical, molecular and cytogenetic analysis of 46, XX testicular disorder of sex development with -positive [O] . 2014

机译：阳性的46，XX睾丸性发育障碍的临床，分子和细胞遗传学分析

A CASE OF 46,XX TESTICULAR DISORDER OF SEX DEVELOPMENT: CLINICAL, MOLECULAR AND CYTOGENETIC STUDIES

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