Mosaic Turner Syndrome Presenting with a 46,XY Karyotype

Melody Rasouli; Katherine McDaniel; Michael Awadalla; Karine Chung

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Mosaic Turner Syndrome Presenting with a 46,XY Karyotype

机译：马赛克特纳综合征呈现46，XY核型

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Although Turner syndrome is most commonly associated with a 45,X genotype, other mosaic genotypes are present in approximately half of all cases. We describe a case of Turner syndrome with a 46,XY genotype by conventional 5-cell karyotype who was subsequently found to have a mosaic genotype of 18% 45,X and 82% 46,XY by 50-cell FISH analysis. Individuals with a mosaic 45,X/46,XY genotype have a variety of phenotypic presentations ranging from male to female which are not correlated with the percentage of mosaicism. Our case represents an extreme example where the genotype is predominately 46,XY and the phenotype typical of Turner syndrome.

机译：虽然特纳综合征最常见于45，X基因型，但其他马赛克基因型在大约一半的情况下存在。我们描述了一种具有46，XY基因型的特纳综合征的案例，其随后被发现具有18％45，X和82％46，XY的镶嵌基因型，通过50细胞鱼分析。具有马赛克45，X / 46，XY基因型的个体具有从男性到雌性的各种表型呈现，其与马赛克主义的百分比没有相关。我们的案例代表了一个极端的例子，其中基因型主要是46，xy和典型的旋转器综合征的表型。

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《Case Reports in Obstetrics and Gynecology》 |2019年第3期|共3页
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Melody Rasouli; Katherine McDaniel; Michael Awadalla; Karine Chung;
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1. Reproductive potential in a case of Mosaic Turners syndrome with 46XY karyotype [J] . Geetha D. Balsarkar, Rachana D. Dalmia, Namita N. Raut International Journal of Reproduction, Contraception, Obstetrics and Gynecology . 2020,第1期

机译：具有46xy核型的马赛克转旋杆菌综合征的生殖潜力
2. Familial Ring (18) Mosaicism in a 23-Year-Old Young Adult With 46,XY,r(18) (::p11->q21::)/46,XY Karyotype, Intellectual Disability, Motor Retardation and Single Maxillary Incisor and in His Phenotypically Normal Mother, Karyotype 4?,XX,+r(18)(::pll- [J] . Sevim Balci, Celal Turner, Cigdem Karaca, American journal of medical genetics, Part A . 2011,第5期

机译：23岁的46，XY，r（18）（:: p11-> q21 ::）/ 46，XY核型，智力障碍，运动迟缓和单颗上颌切牙的年轻成年人的家族环（18）镶嵌在表型正常的母亲中，核型4？，XX，+ r（18）（:: pll-
3. Mosaic Turner Syndrome With 45,X/46,XY Mosaicism and Apparent Absent Uterus [J] . Alya Alhajjaj, Sarraa A. Altarouti, Fatimah Alkhabbaz Cureus. . 2021,第5期

机译：马赛克特纳综合征，45，x / 46，xy马赛西和明显缺席子宫
4. Testing for sex chromosome mosaicism in Turner syndrome [C] . Daniel L. Van Dyke, Anne E. Wikto National Institute of Child Health and Human Development, National Institute of Health . 2006

机译：特纳综合征中性染色体染色体的测试
5. The New Face of Genetics: Education of the Medical Community to Improve Patient Satisfaction. A Comparison of 22q11.2 Deletion Syndrome and Turner Syndrome. [D] . Moser, Cory R. 2013

机译：遗传学的新面貌：医学界对提高患者满意度的教育。 22q11.2删除综合征和特纳综合征的比较。
6. Mosaic Turner Syndrome Presenting with a 46XY Karyotype [O] . Melody Rasouli, Katherine McDaniel, Michael Awadalla, 2019

机译：马赛克特纳综合征呈现46XY核型。
7. Mosaic Turner Syndrome Presenting with a 46,XY Karyotype [O] . Melody Rasouli, Katherine McDaniel, Michael Awadalla, 2019

机译：马赛克特纳综合征呈现46，XY核型
8. Growth and Growth Hormone Therapy in Turner Syndrome (Groei en Groeihormoon Behandeling bij Patienten met het Syndroom van Turner) [R] . Rongen-Westerlaken, C. 1992

机译：特纳综合症的生长和生长激素治疗（Groei en Groeihormoon Behandeling bij patienten遇见het syndroom van Turner）

Mosaic Turner Syndrome Presenting with a 46,XY Karyotype

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