A 45,X/47,XYY/46,XY Karyotype and Y Chromosome Microdeletion in an Infertile Male

Morel F, Gallon F, Amice V, Le Bris MJ, Le Martelot MT, Roche S, Valéri A, Derrien V, Herry A, Amice J, De Braekeleer M. Sex chromosome mosaicism in couples undergoing intracytoplasmic sperm injection. Hum Reprod 2002; 17(10): 2552-2555.10.1093/humrep/17.10.255212351527Search in Google Scholar

Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoume JP, Wasels R Benzacken B. Association des Cytogeneticiens 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): 82-90.10.1093/humrep/16.1.8211139542Search in Google Scholar

Robinson DO, Jacons PA. The origin of the extra Y chromosome in males with a 47, XYY karyotype. Hum Mol Genet 1999; 8(12): 2205-2209.10.1093/hmg/8.12.220510545600Search in Google Scholar

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): 491-496.10.1007/BF002191721634226Search in Google Scholar

Siffroi JP, Le Bourhis C, Krausz C, Barbaux S, Quintana-Murci L, Kanafani S Rouba H, Bujan L, Bourrouillou 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): 2559-2562.10.1093/humrep/15.12.255911098026Search in Google Scholar

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): 798-802.10.1136/jmg.38.11.798173476311732492Search in Google Scholar

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): 145-149.10.1002/ajmg.a.3071215880425Search in Google Scholar

ISCN 2005: an international system for human cytogenetic nomenclature (2005): recommendations of the International Standing Committee of Human Cytogenetic Nomenclature. In: Shaffer LG, Tommerup N, Eds. Basel: S. Karger, 2005.Search in Google Scholar

Monastirli A, Stephanou G, Georgiou S, Andrianopoulos C, Pasmatzi E, Chroni E Katrivanou A, Dimopoulos P, Demopoulos NA, Tsambaos D. Short stature, type E brachydactyly, exostoses, gynecomastia, and cryptorchidism in a patient with 47, XYY/45, X/46, XY mosaicism. Am J Med Sci 2005; 329(4): 208-210.10.1097/00000441-200504000-0000815832105Search in Google Scholar