A rare case of Xq rearrangement - inverted duplication/deletion in a woman with gonadal dysgenesis
Abstract
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.
About the Authors
V. G. Antonenko
ФГБНУ «Медико-генетический научный центр»
Russian Federation
Russian Federation
Zh. G. Markova
ФГБНУ «Медико-генетический научный центр»
Russian Federation
Russian Federation
N. V. Shilova
ФГБНУ «Медико-генетический научный центр»
Russian Federation
Russian Federation
A. V. Glazkova
ГБУЗ МО «Московский областной научно-исследовательский институт акушерства и гинекологии»
Russian Federation
Russian Federation
Yu. V. Tsayuk
ГБУЗ МО «Московский областной научно-исследовательский институт акушерства и гинекологии»
Russian Federation
Russian Federation
O. V. Petrova
ГБУЗ МО «Московский областной научно-исследовательский институт акушерства и гинекологии»
Russian Federation
Russian Federation
References
1. Zuffardi O, Bonaglia M, Ciccone R et al. Inverted duplications deletions: underdiagnosed rearrangements? Clin Genet. 2009;75:505-13.
2. 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.
3. 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.
4. Vuiovic S. Aetiology of premature ovarian failure. Menopause Int. 2009;15(2):72-5.
5. Beck-Peccoz P, Persani L. Premature ovarian failure. Orphanet J Rare Dis. 2006;1:9.
6. 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.
7. Therman E, Laxova R, Susman B. The critical region on the human Xq. Hum Genet. 1990;85(5):455-61.
8. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet. 1999;89:186-200.
9. 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.
10. Sanlaville D, Schluth-Bolard C, Turleau C. Disttal Xq duplication and functional Xq disomy. Orphanet J Rare Dis. 2009;4:4.
11. 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.
12. 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.
13. 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.
14. 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.
Review
For citations:
Antonenko V.G., Markova Zh.G., Shilova N.V., Glazkova A.V., Tsayuk Yu.V., Petrova O.V. A rare case of Xq rearrangement - inverted duplication/deletion in a woman with gonadal dysgenesis. Medical Genetics. 2017;16(8):36-40. (In Russ.)
Views:
1208
Email this article 