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2013, Number 4

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Rev Mex Med Repro 2013; 5.6 (4)

Turner Syndrome 46 XXY Karyotype

Tiro HDR, Guerrero BR
Full text How to cite this article

Language: Spanish
References: 9
Page: 192-194
PDF size: 889.00 Kb.


Key words:

Turner syndrome, 46 XXY karyotype.

ABSTRACT

Turner syndrome is a rare chromosomal disorder with a prevalence of 1/2,000 to 1/5,000 newborns alive; 1 to 2% of all pregnancies have monosomy X. In the cases of mosaicism, it is important to consider the presence of cell line with chromosome that represents 25% of risk of developing gonadoblastoma or dysgerminoma, so recommended prophylactic gonadectomy. The objective of this study is to describe a clinical case of a patient with manifestations of Turner syndrome and 46 XXY karyotype. We review aspects of the clinical and cytogenetic findings.


REFERENCES

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  2. Venkatesan R, Balaji S, Suresh K, Jayakumar R, et al. 45- XO karyotype in women with atypical Turner’s syndrome presentation. Biology and Medicine 2012.

  3. Chvatal VLS, Higa R, Böttcher-Luiz F, Turato ER. Perceptions of femininity and motherhood for outpatients with Turner syndrome and variants. J Res Nurs Midwifery 2001;1:11-16.

  4. Pinsker JE. Turner syndrome: Updating the paradigm of clinical care. J Clin Endocrinol Metab 2012;97:1-7.

  5. Chalas-Boissonnas C, Davy C, Marszalek A, Duranteau L, et al. Cardiovascular findings in women suffering from Turner syndrome requesting oocyte donation. Hum Reprod 2011;26:2754-2762.

  6. Ferrez P, Solberg C, Tavares C, Simone C, Coelho S. Endocrine diseases: perspectives and care in Turner syndrome. Arq Bras Endocrinol Metab 2011;55:550-558.

  7. Kilgore C. Turner Syndrome Guidelines Target Osteoporosis. Pediatric Rheumatology 2007.

  8. Garg M, Gundgurthi A. Growth hormone therapy in Turner’s syndrome: What is the gain. J Assoc Physicians India 2012;60:36-38.

  9. Simone C, Coelho S, Martins M, Fernandes T. Endotelium in Turner syndrome with capillaroscopy. Vasc Bras 2011;10:2.




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Rev Mex Med Repro. 2013;5.6