Estratto
Le malattie cromosomiche, incluse quelle dei cromosomi sessuali, si osservano in non meno dell’1% dei nati vivi.
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Egozcue J, Sarrate Z, Codina-Pascual M et al (2005) Meiotic abnormalities in infertile males. Cytogenet Genome Res 111:337–342
Duzcan F, Aybek Z, Tepeli E et al (2006) Sex chromosome aneuploidy rates in the somatic cells of infertile men. J Reprod Med 51:489–492
Damani MN, Mittal R, Oates RD (2001) Testicular tissue extraction in a young male with 47,XXY Klinefelter’s syndrome: potential strategy for preservation of fertility. Fertil Steril 76:1054–1056
Schiff JD, Palermo GD, Veeck LL et al (2006) Success of testicular sperm extraction [corrected] and intracytoplasmic sperm injection in men with Klinefelter syndrome. J Clin Endocrinol Metab 91:4027
Kyono K, Uto H, Nakajo Y et al (2007) Seven pregnancies and deliveries from non-mosaic Klinefelter syndrome patients using fresh and frozen testicular sperm. J Assist Reprod Genet 24:47–51
Okada H, Goda K, Muto S et al (2005) Four pregnancies in non-mosaic Klinefelter’s syndrome using cryopreserved-thawed testicular spematozoa. Fertil Steril 84:1508
Denschlag D, Tempfer C, Kunze M, Wolff G, Keck C (2004) Assisted reproductive techniques in patients with Klinefelter syndrome: a critical review. Fertil Steril 82:775–779
Komori S, Horiuchi I, Hamada Y et al (2004) Birth of healthy neonates after intracytoplasmic injection of ejaculated or testicular spermatozoa from men with non-mosaic Klinefelter’s syndrome: a report of 2 cases. J Reprod Med 49:126–130
Zhou Q, Cui YX (2005) [Intracytoplasmic sper injection for Klinefelter patients and the risk of chromosome anomaly in the patients’ offspring]. Zhonghua Nan Ke Xue 11:149–151
Okada H, Goda K, Yamamoto Y et al (2005) Age as a limiting factor for successful sperm retrieval in patients with non-mosaic Klinefelter’s syndrome. Fertil Steril 84:1662–1664
Gonsalves J, Turek PJ, Schlegel PN et al (2005) Recombination in men with Klinefelter syndrome. Reproduction 130:223–229
Damani MN, Mittal R, Oates RD (2001) Testicular tissue extraction in a young male with 47, XXY Klinefelter’s syndrome: potential strategy for preservation of fertility. Fertil Steril 76:1054–1056
Dauwerse JG, Hansson KB, Brouwers AA et al (2006) An XX male with the sex-determining region Y gene inserted in the long arm of chromosome 16. Fertil Steril 86:463
Bouayed Abdelmoula N, Portnoi MF et al (2003) Skewed X-chromosome inactivation pattern in SRY positive XX maleness: a case report and review of literature. Ann Genet 46:11–18
Lin YH, Chuang L, Lin YM et al (2005) Isochromosome of Yp in a man with Sertolo-cell-only syndrome. Fertil Steril 83:764–766
Bruyère H, Speevak MD, Winsor EJ et al (2006) Isodicentric Yp: prenatal diagnosis and outcome in 12 cases. Prenat Diagn 26:324–329
Valetto A, Bertini V, Rapalini E et al (2004) Molecular and cytogenetic characterization of a structural rearrangement of Y chrmosome in an azoospermic man. Fertil Steril 81:1388–1390
Abdelmoula NB, Amouri A (2005) [Dicentric Y chromosome]. Ann Biol Clin (Paris) 63:363–375
Lin YH, Lin YM, Lin YH et al (2004) Ring (Y) in two azoospermic men. Ann J Med Genet A 128:209–213
DesGroseilliers M, Fortin F, Lafrenière AM et al (2006) Dynamic increase of a 45,X cell line in a patient with multicentric ring Y chromosomes. Cytogenet Genome Res 115:90–93
Ventruto V, Sacco G, Leonardo F (2001) Testo atlante di citogenetica umana. Una guida al riconoscimento e alla interpretazione delle anomalie cromosomiche in età prenatale e postnatale. Springer-Verlag Italia, Milano
Anton E, Vidal F, Egozcue J, Blanco J (2006) Genetic reproductive risk in inversion carriers. Fertil Steril 85:661–666. Erratum in: Fertil Steril 86:498
Vialard F, Delanete A, Clement P et al (2007) Sperm chromosome analysis in two cases of paracentric inversion. Fertil Steril 87:418
Madon PF, Athalye AS, Parikh FR (2005) Polymorphic variants on chromosomes probably play a significant role in infertility. Reprod Biomed Online 11:726–732
Collode G, Moretti E, Capitani S et al (2006) TEM, FISH and molecular studies in infertile men with pericentric inversion of chromosome 9. Andrologia 38:122–127
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(2008). Cause cromosomiche dell’infertilità di coppia. In: La genetica nell’infertilità maschile. Springer, Milano. https://doi.org/10.1007/978-88-470-0777-2_3
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DOI: https://doi.org/10.1007/978-88-470-0777-2_3
Publisher Name: Springer, Milano
Print ISBN: 978-88-470-0776-5
Online ISBN: 978-88-470-0777-2
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