Chromosomal causes of infertility: The story continues

Textbook of Human Reproductive Genetics

Volumn , Issue , 2014, Pages 97-112

  Yatsenko, Svetlana A ^a   Rajkovic, Aleksandar ^a  

^a UNIVERSITY OF PITTSBURGH SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84923624964     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9781139236027.008     Document Type: Chapter

References (29)

1. Schultz N, Hamra FK, Garbers DL. A multitude of genes expressed solely in meiotic or postmeiotic spermatogenic cells offers a myriad of contraceptive targets. Proc Natl Acad Sci USA 2003; 100: 12 201–6.
2. Harton GL, Tempest HG. Chromosomal disorders and male infertility. Asian J Androl 2012; 14: 32–9.
3. McLachlan RI, O’Bryan MK. Clinical review: state of the art for genetic testing of infertile men. J Clin Endocrinol Metab 2010; 95: 1013–24.
4. O’Flynn O’Brien KL, Varghese AC, Agarwal A. The genetic causes of male factor infertility: a review. Fertil Steril 2010; 93: 1–12.
5. Heard E, Turner J. Function of the sex chromosomes in mammalian fertility. Cold Spring Harb Perspect Biol 2011; 3: a002675.
6. Walsh TJ, Pera RR, Turek PJ. The genetics of male infertility. Semin Reprod Med 2009; 27: 124–36.
7. Wikström AM, Dunkel L. Testicular function in Klinefelter syndrome. Horm Res 2008; 69: 317–26.
8. Martin RH. Cytogenetic determinants of male fertility. Hum Reprod Update 2008; 14: 379–90.
9. Hennebicq S, Pelletier R, Bergues U et al. Risk of trisomy 21 in offspring of patients with Klinefelter’s syndrome. Lancet 2001; 357: 2104–5.
10. Kuroda-Kawaguchi T, Skaletsky H, Brown LG et al. The AZFc region of the Y chromosome features massive palindromes and uniform recurrent deletions in infertile men. Nat Genet 2001; 29: 279–86.
11. Sadeghi-Nejad H, Oates RD. The Y chromosome and male infertility. Curr Opin Urol 2008; 18: 628–32.
12. Kousta E, Papathanasiou A, Skordis N. Sex determination and disorders of sex development according to the revised nomenclature and classification in 46, XX individuals. Hormones (Athens) 2010; 9: 218–31.
13. Vetro A, Ciccone R, Giorda R et al. XX males SRY negative: a confirmed cause of infertility. J Med Genet 2011; 48: 710–12.
14. Hann MC, Lau PE, Tempest HG. Meiotic recombination and male infertility: from basic science to clinical reality? Asian J Androl 2011; 13: 212–18.
15. Marchetti F, Wyrobek AJ. Mechanisms and consequences of paternally-transmitted chromosomal abnormalities. Birth Defects Res C Embryo Today 2005; 75: 112–29.
16. Madan K. Balanced complex chromosome rearrangements: reproductive aspects. A review. Am J Med Genet A 2012; 158A: 947–63.
17. Roux C, Tripogney C, Morel F et al. Segregation of chromosomes in sperm of Robertsonian translocation carriers. Cytogenet Genome Res 2005; 111: 291–6.
18. Engels H, Eggermann T, Caliebe A et al. Genetic counseling in Robertsonian translocations der(13;14): frequencies of reproductive outcomes and infertility in 101 pedigrees. Am J Med Genet A 2008; 146A: 2611–16.
19. Machev N, Gosset P, Warter S et al. Fluorescence in situ hybridization sperm analysis of six translocation carriers provides evidences of an interchromosomal effect. Fert Steril 2005; 84: 365–73.
20. Viville S, Mollard R, Bach M-L et al. Do morphological anomalies reflect chromosomal aneuploidies? Hum Reprod 2000; 15: 2563–6.
21. Simpson JL, Rajkovic A. Ovarian differentiation and gonadal failure. Am J Med Genet 1999; 89:186–200.
22. Toniolo D, Rizzolio F. X chromosome and ovarian failure. Semin Reprod Med 2007; 25: 264–71.
23. Tartaglia NR, Howell S, Sutherland A et al. A review of trisomy X (47, XXX). Orphanet J Rare Dis 2010; 5: 8.
24. McGuire MM, Bowden W, Engel NJ et al. Genomic analysis using high-resolution single-nucleotide polymorphism arrays reveals novel microdeletions associated with premature ovarian failure. Fertil Steril 2011; 95: 1595–600.
25. Aboura A, Dupas C, Tachdjian G et al. Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure. J Clin Endocrinol Metab 2009; 94: 4540–6.
26. Rajcan-Separovic E. Chromosome microarrays in human reproduction. Hum Reprod Update 2012; 18: 555–67.
27. Desjardins MK, Stephenson MD. “Information-rich” reproductive outcomes in carriers of a structural chromosome rearrangement ascertained on the basis of recurrent pregnancy loss. Fertil Steril 2012; 97: 894–903.
28. Jorgensen PB, Kjartansdóttir KR, Fedder J. Care of women with XY karyotype: a clinical practice guideline. Fertil Steril 2010; 94: 105–13.
29. Database of Genomic Variants: dgv.tcag.ca/dgv/app/home