AN SRY-POSITIVE 46,XX MALE
Kaur A1,*, Sachdeva K1, Mahajan S1, Virk SPS2, Singh JR1
*Corresponding Author: Dr. Anupam Kaur, Centre for Genetic Disorders, Guru Nanak Dev University, G.T. Road, Amritsar, 143005, India; Tel.: +91-183-2258802 to 2258809, Ext 3446; Fax: +91-183-2258863; E-mail: anupamkaur@yahoo.com
page: 51

REFERENCES

1. Sinclair AH, Berta P, Palmer MS, Hawkins JR, Griffiths BL, Smith MJ, Foster JW, Frischauf AM, Lovell-Badge R, Goodfellow PN. A gene from the human sex-determining region encodes a protein with homology to a conserved DNA binding motif. Nature 1990; 346(6281): 216-217.

2. McElreavey K, Cortes L. X-Y Translocation and sex differentiation. Reprod Med 2001; 19(2): 133-139.

3. Ferguson-Smith MA. X-Y Chromosomal interchange in the aetiology of the true hermaphoditism and of XX male. Lancet 1966; 2(7461): 475-476.

4. McElreavey K, Rappaport R, Vilian E, Abbas N, Richaud F, Lortat-Jacob S, Berger R, Leconiat M, Boucekkine C, Kucheria K, Temtamy S, Nuhoul-Fekete C, Brauner R, Marc Fellous. A minority of 46, XX true hermaphrodites are positive for the Y-DNA sequence including SRY. Hum Genet 1992; .90(1-2): 121-125.

5. Kaur A, Mahajan S, Singh JR. Cytogenetic investigation in mentally retarded individuals. Int J Hum Genet 2003; 3(1):13-16.

6. De La Chapelle A, Tippett PA, Wettestrand G, Page D. Genetic evidence of X-Y interchange in human XX male. Nature 1984; 307(5497): 170-171.

7. Rego A, Margarit E, Estivill X, Regal M, Garcia-Mayor RV. Development in a 46,XX boy with positive SRY gene. J Pediatr Endocrinol Metab 1996; 9(6): 623-629.

8. Castineyra G, Copelli S, Levalle O. 46,XX Male: clinical, hormonal/genetic findings. Arch Androl 2002; 48(4): 251-257.

9. Li JH, Huang TH, Jiang XW, Xie QD. 46, XX Male sex reversal syndrome. Asian J Androl 2004; 6(2): 165-167.

10. Vernole P, Terrinoni A, Didona B, Laurenzi V, Rossi P, Melino G, Grimaldi P. An SRY-negative XX male with Huriez syndrome. Clin Genet 2000; 57(1): 61-66.




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