Somatic chromosomal abnormalities in infertile men and women

Cytogenetic and Genome Research

Volumn 111, Issue 3-4, 2005, Pages 317-336

  Mau Holzmann, U A ^a  

^a UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOME ABERRATION; AZOOSPERMIA; CHROMOSOME INVERSION; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; CHROMOSOME TRANSLOCATION X; FEMALE INFERTILITY; FERTILIZATION IN VITRO; GENE FREQUENCY; GENETIC COUNSELING; GENETIC RISK; HUMAN; INHERITANCE; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPE; KLINEFELTER SYNDROME; MALE INFERTILITY; MEDICAL DECISION MAKING; OLIGOSPERMIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROGENY; RECIPROCAL CHROMOSOME TRANSLOCATION; REVIEW; RISK ASSESSMENT; ROBERTSONIAN CHROMOSOME TRANSLOCATION; SEX CHROMOSOME ABERRATION; SEX CHROMOSOME MOSAICISM; SPERMATOGENESIS; SPERMATOZOON ABNORMALITY; TREATMENT PLANNING; TURNER SYNDROME; X CHROMOSOME ABERRATION; Y CHROMOSOME LINKED DISORDER;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, X; CHROMOSOMES, HUMAN, Y; FEMALE; HUMANS; INFERTILITY, FEMALE; INFERTILITY, MALE; KLINEFELTER SYNDROME; MALE; TRANSLOCATION, GENETIC;

EID: 26244460166     PISSN: 14248581     EISSN: None     Source Type: Journal    
DOI: 10.1159/000086906     Document Type: Review

References (171)

1. Alves C, Carvalho F, Cremades N, Sousa M, Barros A: Unique (Y;13) translocation in a male with oligozoospermia: cytogenetic and molecular studies. Eur J Hum Genet 10:467-474 (2002).
2. Ansari HA, Jung HR, Hediger R, Fries R, König H, Stranzinger G: A balanced autosomal reciprocal translocation in an azoospermic bull. Cytogenet Cell Genet 62:117-123 (1993).
3. Anton E, Blanco J, Egozcue J, Vidal F: Risk assessment and segregation analysis in a pericentric inversion in v(6)(p23q25) carrier using FISH on decondensed sperm nuclei. Cytogenet Genome Res 97:149-154 (2002).
4. Baschat AA, Küpker W, Al Hasani S, Diedrich K, Schwinger E: Results of cytogenetic analysis in men with severe subfertility prior to intracytoplasmic sperm injection. Hum Reprod 11:330-333 (1996).
5. Basrur PK, Reyes ER, Farazmand A, King WA, Popescu PC: X-autosome translocation and low fertility in a family of crossbred cattle. Anim Reprod Sci 67:1-16 (2001).
6. Belin V, Farhat M, Monset-Couchard M: Intracytoplasmic sperm injection pregnancy with trisomy 20p and monosomy 22q in a newborn resulting from a balanced paternal translocation. Biol Neonate 75:398-401 (1999).
7. Black LD, Nudell DM, Cha I, Cherry AM, Turek PJ: Compound genetic factors as a cause of male infertility. Hum Reprod 15:449-451 (2000).
8. Boivin J, Appleton TC, Baetens P, Baron J, Bitzer J, Corrigan E, Daniels KR, Darwish J, Guerra-Diaz D, Hammar M, McWhinnie A, Strauss B, Thorn P, Wischmann T, Kentenich H: Guidelines for counselling in infertility: outline version. Hum Reprod 16:1301-1304 (2001).
9. Bonduelle M, Van Assche E, Joris H, Keymolen K, Devroey P, Van Steirteghem A, Liebaers I: Prenatal testing in ICSI pregnancies: incidence of chromosomal anomalies in 1586 karyotypes and relation to sperm parameters. Hum Reprod 17:2600-2614 (2002).
10. Bourrouillou G, Dastugue N, Colombies P: Chromosome studies in 952 infertile males with sperm count below 10 million/ml. Hum Genet 71:366-367 (1985).
11. Bourrouillou G, Colombies P, Dastugue N: Chromosome studies in 2136 couples with spontaneous abortions. Hum Genet 74:399-401 (1986).
12. Campana M, Serra A, Neri G: Role of chromosome aberrations in recurrent abortion: a study of 269 balanced translocations. Am J Med Genet 24:341-356 (1986).
13. Carothers AD, Buckton KE, Collyer S, De Mey R, Frackiewicz A, Piper J, Smith L: The effect of variant chromosomes on reproductive fitness in man. Clin Genet 21:280-289 (1982).
14. Causio F, Fischetto R, Schonauer LM, Leonetti T: Intracytoplasmic sperm injection in infertile patients with structural cytogenetic abnormalities. J Reprod Med 44:859-864 (1999).
15. Causio F, Fischetto R, Leonetti T, Schonauer LM: Ovarian stimulation in a woman with premature ovarian failure and X-autosome translocation. J Reprod Med 45:235-239 (2000).
16. Chandley AC, Hargreave TB: Genetic anomaly and ICSI. Hum Reprod 11:930-932 (1996).
17. Chandley AC, Christie S, Fletcher J, Frackiewitz A: Translocation heterozygosity and associated subfertility. Cytogenet Cell Genet 11:516-533 (1972).
18. Chang HJ, Clard RD, Bachman H: The phenotype of 45,X/46,XY mosaicism: an analysis of 92 prenatally diagnosed cases. Am J Hum Genet 46:156-167 (1990).
19. Chen C-P, Hwu Y-M, Yeh L-F, Chern S-R, Lee C-C, Wang W: Successful triplet pregnancy and delivery after oocyte donation in an infertile female with chromosome mosaicism for monosomy X, partial trisomy X, and terminal Xp deletion. Fertil Steril 79:1231-1233 (2003).
20. Coco R, Rahn MI, Garcia Estanga P, Antonioli G, Solari AJ: A constitutional complex chromosome rearrangement involving meiotic arrest in an azoospermic male: Case report. Hum Reprod 19:2784-2790 (2004).
21. Cohen O, Cans C, Mermet M-A, Demongeot J, Jalbert P: Viability thresholds for partial trisomies and monosomies. A study of 1159 viable unbalanced reciprocal translocations. Hum Genet 93:188-194 (1994).
22. Cozzi J, Chevret E, Rousseaux S, Pelletier R, Benitz V, Jalbert H, Sele B: Achievement of meiosis in XXY germ cells: study of 543 sperm karyotypes from an XY/XXY mosaic patient. Hum Genet 3:32-34 (1994).
23. Crüger D, Toft B, Agerholm I, Fedder J, Hald F, Bruun-Petersen G: Birth of a healthy girl after ICSI with ejaculated spermatozoa from a man with non-mosaic Klinefelter's syndrome. Hum Reprod 16:1909-1911 (2001).
24. Crüger DG, Agerholm I, Byriel L, Fedder J, Bruun-Petersen G: Genetic analysis of males from intracytoplasmic sperm injection couples. Clin Genet 64:198-203 (2003).
25. Dale B, Wilding A, De Matteo L, Zullo F: Absence of sperm sex chromosome aneuploidies in an X0/XYY man. Fertil Steril 78:634-636 (2002).
26. Daniel A, Hook EB, Wulf G: Risks of unbalanced progeny at amniocentesis to carriers of chromosome rearrangements: data from United States and Canadian laboratories. Am J Med Genet 31:14-53 (1989).
27. DeBraekeleer M, Dao T: Cytogenetic studies in male infertility: a review. Hum Reprod 6:245-250 (1991).
28. Delobel B, Djlelati R, Gabriel-Robez O, Croquette M-F, Rousseaux-Prevost R, Rousseaux J, Rigot J-M, Rumpler Y: Y-autosome translocation and infertility: usefulness of molecular, cytogenetic and meiotic studies. Hum Genet 102:98-102 (1998).
29. Dohle GR, Halley DJJ, Van Hemel JO, van den Ouweland AMW, Pieters MHEC, Weber RFA, Govaerts LCP: Genetic risk factors in infertile men with severe oligozoospermia and azoospermia. Hum Reprod 17:13-16 (2002).
30. Drouineaud V, Sagot P, Faivre L, Michel F, Jimenez C: Birth after intracytoplasmic injection of epididymal sperm from a man with congenital bilateral absence of the vas deferens who had a Robertsonian translocation. Fertil Steril 79 Suppl 3:1649-1651 (2003).
31. Egozcue S, Blanco J, Vendrell JM, Garcia F, Veiga A, Aran B, Barri PN, Vidal F, Egozcue J: Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion. Hum Reprod Update 6:93-105 (2000).
32. Escudero T, Lee M, Carrel D, Blanco J, Munné S: Analysis of chromosome abnormalities in sperm and embryos from two 45,XY,t(13:14)(q10;q10) carriers. Prenat Diagn 20:599-602 (2000).
33. ESHRE Task Force: European Society of Human Reproduction and Embryology task force on intracytoplasmic sperm injection (1998) Assisted reproduction by intracytplasmic sperm injection: a survey on the clinical experience in 1994 and the children born after ICSI, carried out until 31 December 1993. Hum Reprod 13:1737-1746 (1998).
34. Estop AM, Munné S, Cieply KM, Vandermark KK, Lamb AN, Fisch H: Meiotic products of a Klinefelter 47,XXY male as determined by sperm fluorescence in-situ hybridization analysis. Hum Reprod 13:124-127 (1998).
35. Ferguson-Smith MA, Lennox B, Mack WS: Klinefelter's syndrome: frequency and testicular morphology in relation to nuclear sex. Lancet ii:167 (1957).
36. Findikli N, Kahraman S, Kumtepe Y, Donmez E, Biricik A, Sertyl S, Berkil H, Melil S: Embryo development characteristics in Robertsonian and reciprocal translocations: a comparison of results with non-translocation cases. Reprod Biomed Online 7:563-571 (2003).
37. Foresta C, Ferlin A, Gianaroli L, Dallapiccola B: Guidelines for the appropriate use of genetic tests in infertile couples. Eur J Hum Genet 10:303-312 (2002).
38. Frydman N, Romana S, Le Lorch M, Vekemans M, Frydman R, Tachdjian G: Assisting reproduction of infertile men carrying a Robertsonian translocation. Hum Reprod 16:2274-2277 (2001).
39. Gabriel-Robez O, Rumpler Y: The meiotic pairing behaviour in human spermatocytes carrier of chromosome anomalies and their percussions on reproductive fitness I: inversions and insertions. A European collaborative study. Ann Genet 37:3-10 (1994).
40. Gabriel-Robez O, Ratomponirina C, Dutrillaux B, Carre-Pigeon F, Rumpler Y: Meiotic association between the XY chromosomes and the autosomal quadrivalent of a reciprocal translocation in two infertile men, 46,XY,t(19;22) and 46,XY,t(17;21). Cytogenet Cell Genet 43:154-160 (1986).
41. rd edition (Oxford University Press, New York 2004).
42. Gekas J, Thepot F, Turleau C, Siffroi JP, Dadoune 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 16:82-90 (2001).
43. Gianaroli L, Magli MC, Ferraretti AP, Munné S, Balicchia B, Escudero T, Crippa A: Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 17:3201-3207 (2002).
44. Giltay JC, Tiemessen CHJ, van Inzen WG, Scheres JMJ: One normal child and a chromosomally balanced/normal twin after intracytoplasmic sperm injection in a male with a de-novo t(Y;16) translocation. Hum Reprod 13:2745-2747 (1998).
45. Giltay JC, Kastrop PMM, Tiemessen CHJ, van Inzen WG, Scheres JMJC, Pearson PL: Sperm analysis in a subfertile male with a Y;16 translocation, using four-color FISH. Cytogenet Cell Genet 84:67-72 (1999).
46. Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schöning M, Dufke D: A complex chromosomal rearrangement with a translocation 4;10:14 in a fertile male carrier: ascertainment through an offspring with partial trisomy 14q24→1q22 and partial monosomy 4q27→q28. Cytogenet Genome Res 103:17-23 (2003).
47. Groupe de Cytogénéticiens Francais: Paracentric inversions in man. A French collaborative study. Ann Genet 29:169-176 (1986a).
48. Groupe de Cytogénéticiens Francais: Pericentric inversions in man. A French collaborative study. Ann Genet 29:129-168 (1986b).
49. Guichaoua MR, Quack B, Speed RM, Noel B, Chandley AC, Luciani JM: Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation. Hum Genet 86:162-166 (1990).
50. Guichaoua MR, Speed RM, Luciani JM, Delafontaine D, Chandley AC: Infertility in human males with autosomal translocations. II. Meiotic studies in three reciprocal rearrangements, one showing tertiary monosomy in a 45-chromosome individual and his father. Cytogenet Cell Genet 60:96-101 (1992).
51. Guichaoua MR, Delafontaine D, Noel B, Luciani J: Male infertility of chromosomal origin. Contracept Fertil Sex 21:113-121 (1993).
52. Gustavsson I, Switonski M, Iannuzzi I, Ploen L, Larsson K: Banding studies and synaptonemal complex analysis of an X-autosome translocation in the domestic pig. Cytogenet Cell Genet 50:188-194 (1989).
53. Guttenbach M, Koschorz B, Bernthaler U, Grimm T, Schmid M: Sex chromosome loss and aging: in situ hybridization studies on human interphase nuclei. Am J Hum Genet 57:1143-1150 (1995).
54. Healy D, Trounson A, Andersen A: Female infertility: causes and treatment. Lancet 343:1539-1544 (1994).
55. Hens L, Bonduelle M, Liebaers I, Devroey P, Van Steirteghem AC: Chromosome aberrations in 500 couples referred for in-vitro fertilization or related fertility treatment. Hum Reprod 3:451-457 (1988).
56. Hens L, Devroey P, Van Waesberghe L, Bonduelle M, Van Steirteghem AC, Liebaers I: Chromosome studies and fertility treatment in women with ovarian failure. Clin Genet 36:81-91 (1989).
57. Hinney B, Guttenbach M, Schmid M, Engel W, Michelmann HW: Pregnancy after intracytoplasmic sperm injection with sperm from a man with a 47,XXY Klinefelter's karyotype. Fertil Steril 68:718-720 (1997).
58. Holzgreve W, Schonberg SA, Douglas RG, Golbus MS: X-chromosome hyperhaploidy in couples with multiple spontaneous abortions. Obstet Gynecol 63:237-240 (1984).
59. Hsu LY: Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 53:108-140 (1994).
60. Iannuzzi L, Molteni L, Di Meo GP, De Giovanni A, Perucatti A, Succi G, Incarnato D, Eggen A, Cribiu EP: A case of azoospermia in a bull carrying a Y-autosome reciprocal translocation. Cytogenet Cell Genet 95:225-227 (2001a).
61. Iannuzzi L, Molteni L, Di Meo GP, Perucatti A, Lorenzi L, Incarnato D, De Giovanni A, Succi G, Gustavsson I: A new balanced autosomal reciprocal translocation in cattle revealed by banding techniques and human-painting probes. Cytogenet Cell Genet 94:225-228 (2001b).
62. In't Veld PA, Weber RFA, Los FJ, den Hollander N, Dhont M, Pieters MHEC, Van Hemel JO: Two cases of Robertsonian translocations in oligozoospermic males and their consequences for pregnancies induced by intracytoplasmic sperm injection. Hum Reprod 12:1642-1644 (1997).
63. ISCN (1995): An International System for Human Cytogenetic Nomenclature. Mitelman F (ed) (Karger, Basel 1995).
64. Jacobs PA, Strong JA: A case of human intersexuality having a possible XXY sex-determining mechanism. Nature 183:302-303 (1959).
65. Johannisson R, Schwinger E, Wolff HH, vom Ende V, Löhrs U: The effect of 13;14 Robertsonian translocations on germ-cell differentiation in infertile males. Cytogenet Cell Genet 63:151-155 (1993).
66. Kahraman S, Benkhalifa M, Donmez E, Biricik A, Sertyel S, Findikli N, Berkil H: The results of aneuploidy screening in 276 couples undergoing assisted reproductive techniques. Prenat Diagn 24:307-311 (2004).
67. Kaiser P: Pericentric inversions. Problems and significance for clinical genetics. Hum Genet 68:1-47 (1984).
68. Kalz-Füller B, Sleegers E, Schwanitz G, Schubert R: Characterisation, phenotypic manifestations and X-inactivation pattern in 14 patients with X-autosome translocations. Clin Genet 55:362-366 (1999).
69. Karnis MF, Zimon AE, Lalwani SI, Timmreck LS, Klipstein S, Reindollar RH: Risk of death in pregnancy achieved through oocyte donation in patients with Turner syndrome: a national study. Fertil Steril 80:498-501 (2003).
70. Kent-First M: The critical and expanding role of genetics in assisted reproduction. Prenat Diagn 20:536-551 (2000).
71. Kjessler B: Karyotype, meiosis and spermatogenesis in a sample of men attending an infertile clinic. Monogr Hum Genet 2:1-93 (1966).
72. Kleiman SE, Yogev L, Gamzu R, Hauser R, Botchan A, Lessing JB, Paz G, Yavetz H: Genetic evaluation of infertile men. Hum Reprod 14:33-38 (1999).
73. Kovács A, Villagómez DAF, Gustavsson I, Lindbland K, Foote RH, Howard TH: Synaptonemal complex analysis of a three-breakpoint translocation in a subfertile bull. Cytogenet Cell Genet 61:195-201 (1992).
74. Kruse R, Guttenbach M, Schartmann B, Schubert R, van der Ven H, Schmid M, Propping P: Genetic counselling in a patient with XXY/XXXY/XY mosaic Klinefelter's syndrome: estimate of sex chromosome aberrations in sperm before intracytoplasmic sperm injection. Fertil Steril 69:482-485 (1998).
75. Küpker W, Schwinger E, Hiort O, Ludwig M, Nikolettos N, Schlegel PN, Diedrich K: Genetics of male subfertility: consequences for the clinical work-up. Hum Reprod 14:24-37 (1999).
76. Lange R, Johannson G, Engel W: Chromosome studies in in-vitro fertilization patients. Hum Reprod 8:572-574 (1993).
77. Layman LC: Human gene mutations causing infertility. J Med Genet 39:153-161 (2002).
78. Ledbetter DH, Engel E: Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet 4:1757-1764 (1995).
79. Lee MH, Park SY, Kim YM, Kim JM, Han JY, Kim MY, Ryu HM: Prenatal diagnosis of a familial complex chromosome rearrangement involving chromosome 5, 10, 16 and 18. Prenat Diagn 22:102-104 (2002).
80. Lee S, Lee S-H, Chung T-G, Kim H-J, Yon T-K, Kwak I-P, Park S-H, Cha W-T, Cho S-W, Cha K-Y: Molecular and cytogenetic characterization of two azoospermic patients with X-autosome translocation. J Assist Reprod Genet 20:385-389 (2003).
81. Li CH, Zhang XM, Li YG, Zhu BS, Meng YS, Feng HY, Wu Z, Gao MY, Tang XH, Wu JY: Preimplantation genetic diagnosis for a patient with Robertsonian translocation. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 21:488-490 (2004).
82. Liehr T, Claussen U, Starke H: Small supernumerary marker chromosomes (sSMC) in humans. Cytogenet Genome Res 107:55-67 (2004).
83. Ma S, Tang SS, HoYuen B, Bruyere H, Penaherrera M, Robinson WP: Cytogenetic and molecular study of a premature male infant with 46,XX derived from ICSI: Case report. Hum Reprod 18:2298-2301 (2003a).
84. Ma S, Yuen BH, Penaherrera M, Koehn D, Ness L, Robinson W: ICSI and the transmission of X-autosomal translocation: a three-generation evaluation of X;20 translocation: Case report. Hum Reprod 18:1377-1382 (2003b).
85. Madan K: Balanced structural changes involving the human X: effect on sexual phenotype. Hum Genet 63:216-221 (1983).
86. Madan K: Paracentric inversions: a review. Hum Genet 96:503-515 (1995).
87. Madan K, Nieuwint A, van Bever Y: Recombination in a balanced complex translocation of a mother leading to a balanced reciprocal translocation in the child. Review of 60 cases of balanced complex translocations. Hum Genet 99:806-815 (1997).
88. Magee AC, Nevin NC, Armstrong MJ, McGibbon D, Nevin J: Ullrich-Turner syndrome: Seven pregnancies in an apparent 45,X woman. Am J Med Genet 75:1-3 (1998).
89. Mahlstedt PP: The psychological component of infertility. Fertil Steril 43:335-346 (1985).
90. Makinen A, Katila T, Andersson M, Gustavsson I: Two sterile stallions with XXY-syndrome. Equine Vet J 32:358-360 (2000).
91. Martin RH: Sperm chromosome analysis in a man heterozygous for a paracentric inversion of chromosome 7 (q11q22). Hum Genet 73:97-100 (1986).
92. Martin RH: Cytogenetic analysis of sperm from a man heterozygous for a pericentric inversion, inv(3)(p25q21). Am J Hum Genet 48:856-861 (1991).
93. Martin RH: Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion, inv(8)(p23q22). Cytogenet Cell Genet 62:100-202 (1993).
94. Martin RH: The risk of chromosomal abnormalities following ICSI. Hum Reprod 11:924-925 (1996).
95. Martin RH, Chernos JE, Lowry RB, Pattinson HA, Barclay L, Ko E: Analysis of sperm chromosome complements from a man heterozygous for a pericentric inversion of chromosome 1. Hum Genet 93:135-138 (1994).
96. Matsuda T, Nonomura M, Okada K, Hayashi K, Yoshida O: Cytogenetic survey of subfertile males in Japan. Urol Int 44:194-197 (1989).
97. Matsuda T, Horii Y, Hayashi K, Yoshida O: Quantitative analysis of seminiferous epithelium in subfertile carriers of chromosomal translocations. Int J Fertil 36:344-351 (1991).
98. Mattei JF, Mattel MG, Moreau N, Guichaoua M, Bolcioni AM, Mattei A: Chromosome studies in 1942 women before artificial insemination with donor semen, in David G, Price WS (eds): Human Artificial Insemination and Semen Preservation, pp 389-396 (Plenum Press, New York 1980).
99. Mau U, Baeckert I, Kaiser P, Kiesel L: Chromosomal findings in 150 couples referred for genetic counseling prior to intracytoplasmic sperm injection. Hum Reprod 12:930-937 (1997).
100. Ménézo Y, Bellec V, Zaroukian A, Benkhalifa M: Embryo selection by IVF, co-culture and transfer at the blastocyst stage in case of translocation. Hum Reprod 12:2802-2803 (1997).
101. Meschede D, Horst J: Sex chromosomal anomalies in pregnancies conceived through intracytoplasmic sperm injection: a case for genetic counselling. Hum Reprod 12:1125-1127 (1997).
102. Meschede D, Froster UG, Bergmann M, Nieschlag E: Familial pericentric inversion of chromosome 1 (p34q23) and male infertility with stage specific spermatogenic arrest. J Med Genet 31:573-575 (1994).
103. Meschede D, Louwen F, Eiben B, Horst J: Intracytoplasmic sperm injection pregnancy with fetal trisomy 9p resulting from a balanced paternal translocation. Hum Reprod 12:1913-1914 (1997).
104. Meschede D, Lemcke B, Exeler JR, De Geyter C, Behre HM, Nieschlag E, Horst J: Chromosome abnormalities in 447 couples undergoing intracytoplasmic sperm injection - prevalence, type, sex distribution, and reproductive relevance. Hum Reprod 13:576-582 (1998).
105. Micic M, Micic S, Diklic V: Chromosomal constitution of infertile men. Clin Genet 25:33-36 (1984).
106. Midro AT, Stengel-Rutkowski S, Stene J: Experiences with risk estimates for carriere of chromosomal reciprocal translocations. Clin Genet 41:113-122 (1992).
107. Montag M, van der Ven K, Ved S, Schmutzler A, Prietl G, Krebs D, Peschka B, Schwanitz G, Albers P, Haidl G, van der Ven H: Success of intracytoplasmic sperm injection in couples with male and/or female chromosome aberrations. Hum Reprod 12:2635-2640 (1997).
108. Moore CM, Leland MM, Brzyski RG, McKeand J, Witte SM, Rogers J: A baboon (Papio hamadryas) with an isochromosome for the long arm of the X. Cytogenet Cell Genet 82:80-82 (1998).
109. Mordalska A, Barczyk A, Hubner H, Malinowski A, Szpakowski M: Aberration of somatic karyotype in normozoospermic males from infertile couples. Ginekol Pol 69:474-478 (1998).
110. Morel F, Gallon F, Amice V, Le Bris M-J, 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 17:2552-2555 (2002).
111. Munné S, Escudero T, Sandalinas M, Sable D, Cohen J: Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet 90:303-308 (2000a).
112. Munné S, Sandalinas M, Escudero T, Fung J, Gianaroli L, Cohen J: Outcome of preimplantation genetic diagnosis of translocations. Fertil Steril 73:1209-1218 (2000b).
113. Munné S, Sandalinas M, Escudero T, Velilla E, Walmsley R, Sadowy S, Cohen J, Sable D: Improved Implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online 7:91-97 (2003).
114. Navarro J, Benet J, Martorell MR, Templado C, Egozcue J: Segregation analysis in a man heterozygous for a pericentric inversion of chromosome 7 (p13;q36) by sperm chromosome studies. Am J Hum Genet 53:214-219 (1993).
115. Neal MS, Reyes ER, Fisher KS, King WA, Basrur PK: Reproductive consequences of an X-autosome translocation in a swine herd. Can Vet J 39:232-237 (1998).
116. Newberg MT, Francisco RG, Pang MG, Brugo S, Doncel GF, Acosta AA, Hoegerman SF, Kearns WG: Cytogenetics of somatic cells and sperm from a 46,XY/45,X mosaic male with moderate oligoasthenoteratozoospermia. Fertil Steril 69:146-148 (1998).
117. Nielsen J, Wohlert M: Chromosome abnormalities found among 34,910 newborn children: results from a 13 year incidence study in Arhus, Denmark. Hum Genet 87:81-83 (1991).
118. Nodar F, De Vincentiis S, Olmedo SB, Papier S, Urrutia F, Acosta AA: Birth of twin males with normal karyotype after intracytoplasmic sperm injection with use of testicular spermatozoa from a nonmosaic patient with Klinefelter's syndrome. Fertil Steril 71:1149-1152 (1999).
119. Nowinski GP, Van Dyke DL, Tilley BC, Jacobsen G, Babu VR, Worsham MJ, Wilson GN, Weiss L: The frequency of aneuploidy in cultured lymphocytes is correlated with age and gender but not with reproductive history. Am J Hum Genet 46:1101-1111 (1990).
120. Oates RD, Silber S, Brown LG, Page DC: Clinical characterization of 42 oligospermic or azoospermic men with microdeletion of the AZFc region of the Y chromosome, and of 18 children conceived via ICSI. Hum Reprod 17:2813-2824 (2002).
121. Ostrowski RS, Grass F, Norton J: Evaluation of X chromosomal mosaicism by fluorescent in situ hybridisation in women who have recurrent spontaneous pregnancy losses. Am J Hum Genet 53, Abstr 587 (1993).
122. Palermo G, Joris H, Devroey P, Van Steirteghem AC: Pregnancies after intracytoplasmic injection of single spermatozoon into an oocyte. Lancet 340:17-18 (1992).
123. Pandiyan N, Jequier A: Mitotic chromosomal anomalies among 1210 infertile men. Hum Reprod 11:2604-2608 (1996).
124. Pauer HU, Hinney B, Michelmann HW, Krasemann EW, Zoll B, Engel W: Relevance of genetic counselling in couples prior to intracytoplasmic sperm injection. Hum Reprod 12:1909-1912 (1997).
125. Penna Videaú S, Araujo H, Ballesta F, Ballescá JL, Vanrell JA: Chromosomal abnormalities and polymorphisms in infertile men. Arch Androl 46:205-210 (2001).
126. Persson JW, Peters GB, Saunders DM: Is ICSI associated with risks of genetic disease? Implications for counselling, practice and research. Hum Reprod 11:930-932 (1996).
127. Peschka B, Leygraaf J, Van der Ven K, Montag M, Schartmann B, Schubert R, Van der Ven H, Schwanitz G: Type and frequency of chromosome aberrations in 781 couples undergoing intracytoplasmic sperm injection. Hum Reprod 14:2257-2263 (1999).
128. Poulakis V, Witzsch U, Diehl W, de Vries R, Becht E, Trotnow S: Birth of two infants with normal karyotype after intracytoplasmic injection of sperm obtained by testicular extraction from two men with nonmosaic Klinefelter's syndrome. Fertil Steril 76:1060-1062 (2001).
129. Prakash B, Balain DS, Lathwal SS, Malik RK: Infertility associated with monosomy-X in a crossbred cattle heifer. Vet Rec 137:436-437 (1995).
130. Purvis-Smith SG, Saville T, Manass S, Yip MY, Lam-Po-Tang PR, Duffy B, Johnston H, Leigh D, McDonald B: Uniparental disomy 15 resulting from "correction" of an initial trisomy 15. Am J Hum Genet 50:1348-1350 (1992).
131. Quack B, Speed RM, Luciani JM, Noel B, Guichaoua M, Chandley AC: Meiotic analysis of two human reciprocal X-autosome translocations. Cytogenet Cell Genet 48:43-47 (1988).
132. Quilter CR, Svennevik EC, Serhal P, Ralph D, Bahadur G, Stanhope R, Sütterlin M, Delhanty JD, Taylor KE: Cytogenetic and Y chromosome microdeletion screening of a random group of infertile males. Fertil Steril 79:301-307 (2003).
133. Raziel A, Friedler S, Schachter M, Kasterstein E, Strassburger D, Ron-El R: Increased frequency of female partner chromosomal abnormalities in patients with high-order implantation failure after IVF. Fertil Steril 78:515-519 (2002).
134. Retief AE, Van Zyl JA, Menkveld R, Fox MF, Kotzè GM, Brusnicky J: Chromosome studies in 496 infertile males with sperm count below 10 million/ml. Hum Genet 66:162-164 (1984).
135. Rives N, Siméon N, Milazzo JP, Barthélémy C, Macé B: Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: case reports and review of the literature. Int J Androl 26:242-249 (2003).
136. Ron-El R, Friedler S, Strassburger D, Komarovsky D, Schachter M, Raziel A: Birth of a healthy neonate following the intracytoplasmic infection of testicular spermatozoa from a patient with Klinefelter's syndrome. Hum Reprod 14:368-370 (1999).
137. Salvi R, Bellotti D, Tonelli M, Boccuti M: A cytogenetic study in couples with unexplained infertility. Prenat Diag 12:138 (1992).
138. Schinzel A: Genomic imprinting: consequences of uniparental disomy for human disease. Am J Med Genet 46:683-684 (1993).
139. Schmidt M, Du Sart D: Functional disomies of the X chromosome influence the cell selection and hence the X inactivation pattern in females with balanced X-autosome translocations: a review of 122 cases. Am J Med Genet 42:161-169 (1992).
140. Scholtes MCW, Behrend C, Dietzel-Dahmen J, Van Hoogstraeten DG, Marx K, Wohlers S, Verhoeven H, Zeilmaker GH: Chromosomal aberrations in couples undergoing intracytoplasmic sperm injection: influence on implantation and ongoing pregnancy rates. Fertil Steril 70:933-937 (1998).
141. Schreurs A, Legius E, Meuleman C, Fryns JP, D'Hooghe TM: Increased frequency of chromosomal abnormalities in female partners of couples undergoing in vitro fertilization or intracytoplasmic sperm injection. Fertil Steril 74:94-96 (2000).
142. Schwartz S, Palmer CG: Chromosomal findings in 164 couples with repeated spontaneous abortions: with special consideration to prior reproductive history. Hum Genet 63:28-34 (1983).
143. Shi Q, Martin RH: Multicolor fluorescence in situ hybridisation analysis of meiotic chromosome segregation in a 47,XYY male and a review of the literature. Am J Med Genet 93:40-46 (2000).
144. Siffroi JP, Benzacken B, Straub B, Le Bourhis C, North MO, Curotti G, Bellec G, Alvarez S, Dadoune JP: Assisted reproductive technology and complex chromosomal rearrangements: the limits of ICSI. Mol Hum Reprod 3:847-851 (1997).
145. Simon C, Rubio C, Vidal F, Gimenez C, Moreno C, Parrilla JJ, Pellicer A: Increased chromosome abnormalities in human preimplantation embryos after in-vitro fertilization in patients with recurrent miscarriage. Reprod Fertil Dev 10:87-92 (1998).
146. Simpson JL, Rajkovic A: Ovarian differentiation and gonadal failure. Am J Med Genet 89:186-200 (1999).
147. Simpson JL, Meyers CM, Martin AO, Elias S, Ober C: Translocations are infrequent among couples having repeated spontaneous abortions but no other abnormal pregnancies. Fertil Steril 51:811-814 (1989).
148. Sklower Brooks S, Genovese M, Gu H, Duncan CJ, Shanske A, Jenkins EC: Normal adaptive function with learning disability in duplication 8p including band p22. Am J Med Genet 78:114-117 (1998).
149. Sonntag B, Meschede D, Ullmann U, Gassner P, Horst J, Nieschlag P, Behre HM: Low-level sex chromosome mosaicism in female partners of couples undergoing ICSI therapy does not significantly affect treatment outcome. Hum Reprod 16:1648-1652 (2001).
150. Stern C, Pertile M, Norris H, Hale L, Baker HWK: Chromosome translocations in couples with in-vitro fertilization implantation failure. Hum Reprod 14:2097-2101 (1999).
151. Stuppia L, Gatta V, Calabrese G, Guanciali Franchi P, Morizio E, Bombieri C, Mingarelli R, Sforza V, Frajese G, Tenaglia R, Palka G: A quarter of men with idiopathic oligo-azoospermia display chromosomal abnormalities and microdeletions of different types in interval 6 of Yq11. Hum Genet 102:566-570 (1998).
152. Sugawara N, Tokunaga Y, Maeda M, Komaba R, Araki Y: A successful pregnancy outcome using frozen testicular sperm from a chimeric infertile male with a 46,XX/46,XY karyotype: Case report. Hum Reprod 20:147-148 (2005).
153. Tarani L, Lampariello S, Raguso G, Colloridi F, Pucarelli I, Pasquino AM, Bruni LA: Pregnancy in patients with Turner's syndrome: six new cases and review of the literature. Gynecol Endocrinol 12:83-87 (1998).
154. Terzoli G, Lalatta F, Lobbiani A, Simoni G, Colucci G: Fertility in a 47,XXY patient: assessment of biological paternity by deoxyribonucleic acid fingerprinting. Fertil Steril 58:821-822 (1992).
155. Testart J, Gautier E, Brami C, Rolet F, Sedbon E, Thebault A: Intracytoplasmic sperm injection in infertile patients with structural chromosomal abnormalities. Hum Reprod 11:2609-2612 (1996).
156. Teyssier M, Rafat A, Pugeat M: Case of (Y;1) familial translocation. Am J Med Genet 46:339-340 (1993).
157. The ESHRE Capri Workshop Group: Optimal use of infertility diagnostic tests and treatments. Hum Reprod 15:723-732 (2000).
158. Therman E, Susman M: Human Chromosomes: Structure, Behaviour, and Effects, pp 273-287 (Springer-Verlag, New York 1993).
159. Therman E, Laxova R, Susman B: The critical region on the human Xq. Hum Genet 85:455-461 (1990).
160. Tuerlings JHAM, de France HF, Hamers A, Hordijk R, Van Hemel JO, Hansson K, Hoovers JMN, Madan K, Van Der Blij-Philipsen M, Gerssen-Schoorl KBJ, Kremer JAM, Smeets DFCM: Chromosome studies in 1792 males prior to intracytoplasmic sperm injection: the Dutch experience. Eur J Hum Genet 6:194-200 (1998).
161. Van Assche E, Bonduelle M, Toumaye H, Joris H, Verheyen G, Devroey P, Van Steirteghem A, Liebaers I: Cytogenetics of infertile men. Hum Reprod 11 (Suppl 4):1-24 (1996).
162. Van der Ven K, Peschka B, Montag M, Lange R, Schwanitz G, van der Ven H: Increased frequency of congenital chromosomal aberrations in female partners of couples undergoing intracytoplasmic sperm injection. Hum Reprod 13:48-54 (1998).
163. Van Opstal D, Los F, Ramlakhan S, Van Hemel JO, Van Den Ouweland AM, Brandenburg H, Pieters MH, Verhoeff A, Vermeer MC, Dhont M, In't Veld PA: Determination of the parental origin in nine cases of prenatally detected chromosome aberrations found after intracytoplasmic sperm injection. Hum Reprod 12:682-686 (1997).
164. Vogt PH, Edelmann A, Hirschmann P, Köhler MR: The azoospermia factor (AZF) of the human Y chromosome in Yq11: function and analysis in spermatogenesis. Reprod Fertil Dev 7:685-693 (1995).
165. Villagómez DA, Andersson M, Gustavsson I, Plöen L:
166. Waters J, Campbell PL, Crocker AJ, Campbell CM: Phenotypic effects of balanced X-autosome translocations in females: a retrospective survey of 104 cases reported from UK laboratories. Hum Genet 108:318-327 (2001).
167. Westlander G, Hamberger L, Hanson C, Lundin K, Nilsson L, Söderlund B, Werner C, Bergh C: Diagnostic epididymal and testicular sperm recovery and genetic aspects in azoospermic males. Hum Reprod 14:118-122 (1999).
168. Wolff DJ, Miller AP, Van Dyke DL, Schwartz S, Willard HF: Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Am J Hum Genet 58:154-160 (1996).
169. Wu RC, Kuo PL, Lin SJ, Liu CH, Tzeng CC: X chromosome mosaicism in patients with recurrent abortion or premature ovarian failure. J Formos Med Assoc 92:953-956 (1993).
170. Yoshida A, Miura K, Shirai M: Cytogenetic survey of 1007 infertile males. Urol Int 58:166-176 (1997).
171. Zinn AR, Ouyang B, Ross JL, Varma S, Bourgeois M, Tonk V: Del(X)(p21.2) in a mother and two daughters with variable ovarian function. Clin Genet 52:235-239 (1997).