A 45,X/47,XYY/46,XY KARYOTYPE AND Y CHROMOSOME MICRODELETION IN AN INFERTILE MALE
Bulakbasi T1, Sahin FI1,*, Yil maz Z1, Zeyneloglu HB2
*Corresponding Author: Professor Dr. Feride Iffet Sahin, Department of Medical Genetics, Faculty of Medicine, Baskent University, Kubilay Sokak No:36, Maltepe 06570, Ankara, Turkey; Tel : +90-312-2324400; Fax : +90-312-2319134; E-mail: feridesahin@hotmail.com
page: 51

REFERENCES

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  2. Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoume JP, Wasels R Benzacken B. Association des Cyto geneticiens de Langue Francaise. Chromosomal factors of infertility in candidate couples for ICSI: an equal risk of constitutional aberrations in women and men. Hum Reprod 2001; 16(1): 82-90.

  3. Robinson DO, Jacons PA. The origin of the extra Y chromosome in males with a 47,XYY karyotype. Hum Mol Genet 1999; 8(12): 2205-2209.

  4. Vogt PH, Chandley AC, Hargreave TB, Keil R, Ma K, Sharkey A. Microdeletions in interval 6 of the Y chromosome of males with idiopathic sterility point to disruption of AZF, a human spermatogenesis gene. Hum Genet 1992; 89(5): 491-496.

  5. Siffroi JP, Le Bourhis C, Krausz C, Barbaux S, Quintana-Murci L, Kanafani S Rouba H, Bujan L, Bour rouillou G, Seifer I, Boucher D, Fellous M, McElreavey K, Dadoune JP. Sex chromosome mosaicism in males carrying Y chromosome long arm deletions. Hum Reprod 2000; 15(12): 2559-2562.

  6. Jaruzelska J, Korcz A, Wojda A, Jedrzejcak P, Bierla J, Surmacz T, Pawelczyk L, Page DC, Kotecki M. Mosaicism for 45,X cell line may accentuate the severity of spermatogenic defects in men with AZFc deletion. J Med Genet 2001; 38(11): 798-802.

  7. Patsalis PC, Skordis N, Sismani C, Kousoulidou L, Koumbaris G, Eftychi C, Stavrides G, Ioulianos A, Kitsiou-Tzeli S, Galla-Voumvouraki A, Kosmaidou Z, Hadjiathanasiou CG, McElreavey K. Identification of high frequency of Y chromosome deletions in patients with sex chromosome mosaicism and correlation with the clinical phenotype and Y-chromosome instability. Am J Med Genet A 2005; 135(2): 145-149.

  8. ISCN 2005: an international system for human cyto genetic nomenclature (2005): recommendations of the International Standing Committee of Human Cytogenetic Nomenclature. In: Shaffer LG, Tommerup N, Eds. Basel: S. Karger, 2005.

  9. Monastirli A, Stephanou G, Georgiou S, Andriano poulos C, Pasmatzi E, Chroni E Katrivanou A, Dimo poulos P, Demopoulos NA, Tsambaos D. Short stature, type E brachydactyly, exostoses, gynecomastia, and crypt orchidism in a patient with 47,XYY/45,X/46,XY mosa icism. Am J Med Sci 2005; 329(4): 208-210.




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