medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLCmedgen-319Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASEРедкий случай перестройки длинного плеча Х-хромосомы - инвертированная дупликация/делеция у женщины с дисгенезией гонадA rare case of Xq rearrangement - inverted duplication/deletion in a woman with gonadal dysgenesisАнтоненкоВ. Г.AntonenkoV. G.noemail@neicon.ruМарковаЖ. Г.MarkovaZh. G.noemail@neicon.ruШиловаН. В.ShilovaN. V.noemail@neicon.ruГлазковаА. В.GlazkovaA. V.noemail@neicon.ruЦаюкЮ. В.TsayukYu. V.noemail@neicon.ruПетроваО. В.PetrovaO. V.noemail@neicon.ruФГБНУ «Медико-генетический научный центр»Russian FederationГБУЗ МО «Московский областной научно-исследовательский институт акушерства и гинекологии»Russian Federation2017200220181683640Copyright © Антоненко В.Г., Маркова Ж.Г., Шилова Н.В., Глазкова А.В., Цаюк Ю.В., Петрова О.В., 20182018Антоненко В.Г., Маркова Ж.Г., Шилова Н.В., Глазкова А.В., Цаюк Ю.В., Петрова О.В.Antonenko V.G., Markova Z.G., Shilova N.V., Glazkova A.V., Tsayuk Y.V., Petrova O.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/319

Представлен случай редкой хромосомной патологии - инвертированной дупликации/делеции длинного плеча Х-хромосомы у женщины с дисгенезией гонад. Обсуждаются механизмы формирования подобных перестроек и особенности клинических проявлений при патологии длинного плеча Х-хромосомы.

We report on a rare case of a chromosome abnormality - inverted Xq duplication/deletion in a woman with gonadal dysgenesis. Mechanisms of formation of such rearrangements and specifics of clinical signs in patients with Xq abnormalities are discussed.

инвертированная дупликация/делециятрисомия Хqмоносомия Хqдисгенезия гонадпреждевременная недостаточность функции яичниковinverted duplication/deletionXq partial trisomyXq partial monosomygonadal dysgenesispremature ovarian failureReferencesZuffardi O, Bonaglia M, Ciccone R et al. Inverted duplications deletions: underdiagnosed rearrangements? Clin Genet. 2009;75:505-13.Zuffardi O, Bonaglia M, Ciccone R et al. Inverted duplications deletions: underdiagnosed rearrangements? Clin Genet. 2009;75:505-13.Rossi E, Riegel M, Messa J et al. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.Med Genet. 2008;45(3):147-54.Rossi E, Riegel M, Messa J et al. Duplications in addition to terminal deletions are present in a proportion of ring chromosomes: clues to the mechanisms of formation.Med Genet. 2008;45(3):147-54.Guilherme RS, Meloni VFA, Kim Ch A et al. Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med Genet. 2011;12:171.Guilherme RS, Meloni VFA, Kim Ch A et al. Mechanisms of ring chromosome formation, ring instability and clinical consequences. BMC Med Genet. 2011;12:171.Vuiovic S. Aetiology of premature ovarian failure. Menopause Int. 2009;15(2):72-5.Vuiovic S. Aetiology of premature ovarian failure. Menopause Int. 2009;15(2):72-5.Beck-Peccoz P, Persani L. Premature ovarian failure. Orphanet J Rare Dis. 2006;1:9.Beck-Peccoz P, Persani L. Premature ovarian failure. Orphanet J Rare Dis. 2006;1:9.Therman E, Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet.1990;85(2):175-83.Therman E, Susman B. The similarity of phenotypic effects caused by Xp and Xq deletions in the human female: a hypothesis. Hum Genet.1990;85(2):175-83.Therman E, Laxova R, Susman B. The critical region on the human Xq. Hum Genet. 1990;85(5):455-61.Therman E, Laxova R, Susman B. The critical region on the human Xq. Hum Genet. 1990;85(5):455-61.Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet. 1999;89:186-200.Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet. 1999;89:186-200.Marozzi A, Manfredini E, Tibiletti MG et al. Molecular definition of Xq common- deleted region in patients affected by premature ovarian failure. Hum Genet. 2000;107(4):304-11.Marozzi A, Manfredini E, Tibiletti MG et al. Molecular definition of Xq common- deleted region in patients affected by premature ovarian failure. Hum Genet. 2000;107(4):304-11.Sanlaville D, Schluth-Bolard C, Turleau C. Disttal Xq duplication and functional Xq disomy. Orphanet J Rare Dis. 2009;4:4.Sanlaville D, Schluth-Bolard C, Turleau C. Disttal Xq duplication and functional Xq disomy. Orphanet J Rare Dis. 2009;4:4.Gabbett MT, Peters GB, Carmichael JM et al. Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. Clin Genet. 2008;73:353-9.Gabbett MT, Peters GB, Carmichael JM et al. Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region. Clin Genet. 2008;73:353-9.Armstrong L, McGowan-Jordan J, Brierley K et al. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. Am J Med Genet 2003;116A(1):71-6.Armstrong L, McGowan-Jordan J, Brierley K et al. De novo dup(X)(q22.3q26) in a girl with evidence that functional disomy of X material is the cause of her abnormal phenotype. Am J Med Genet 2003;116A(1):71-6.Stankiewicz P, Thiele H, Schlicker M et al. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. Am J Med Genet 2005;138(1):11-7.Stankiewicz P, Thiele H, Schlicker M et al. Duplication of Xq26.2-q27.1, including SOX3, in a mother and daughter with short stature and dyslalia. Am J Med Genet 2005;138(1):11-7.Chen CP, Su YN, Lin HH et al. De novo duplication of Xq22.1->q24 with a disruption of the NXF gene cluster in a mentally retarded women with short stature and premature jvarian failure. Taiwan J Obstet Gynecol. 2011;50(3):339-44.Chen CP, Su YN, Lin HH et al. De novo duplication of Xq22.1->q24 with a disruption of the NXF gene cluster in a mentally retarded women with short stature and premature jvarian failure. Taiwan J Obstet Gynecol. 2011;50(3):339-44.

The authors declare that there are no conflicts of interest present.