The chromosomal analysis of human oocytes. An overview of established procedures

Human Reproduction Update

Volumn 11, Issue 1, 2005, Pages 15-32

  Pellestor, Franck ^a   Anahory, T ^b   Hamamah, S ^b  

^a INSTITUTE OF HUMAN GENETICS   (France)

^b HÔPITAL ARNAUD DE VILLENEUVE   (France)

Author keywords

Aneuploidy; FISH; Karyotype; Oocyte; Polar body

Indexed keywords

PEPTIDE NUCLEIC ACID;

ACCURACY; ANALYSIS OF VARIANCE; ANALYTIC METHOD; ANEUPLOIDY; CHROMATID EXCHANGE; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CHROMOSOME IDENTIFICATION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; FEMALE; FERTILIZATION IN VITRO; FLUORESCENCE IN SITU HYBRIDIZATION; FREQUENCY ANALYSIS; GAMETE; HUMAN; HUMAN CELL; IN VITRO STUDY; INCIDENCE; KARYOTYPING; MEIOSIS; NONDISJUNCTION; OOCYTE; PREVALENCE; PRIMED IN SITU LABELING; PRIORITY JOURNAL; RELIABILITY; REVIEW;

ANEUPLOIDY; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CYTOGENETIC ANALYSIS; FEMALE; GENOMICS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOLECULAR DIAGNOSTIC TECHNIQUES; OOCYTES; PEPTIDE NUCLEIC ACIDS;

EID: 13444305387     PISSN: 13554786     EISSN: None     Source Type: Journal    
DOI: 10.1093/humupd/dmh051     Document Type: Review

References (194)

1. Almeida PA and Bolton VN (1993) Immaturity and chromosomal abnormalities in oocytes that fail to develop pronuclei following insemination in vitro. Hum Reprod 8,229-232.
2. Almeida PA and Bolton VN (1994) The relationship between chromosomal abnormalities in the human oocyte and fertilization in vitro. Hum Reprod 9,343-346.
3. Almeida PA and Bolton VN (1995) The effect of temperature fluctuations on the cytoskeletal organisation and chromosomal constitution of the human oocyte. Zygote 3,357-365.
4. Anahory T, Andreo B, Regnier-Vigouroux G, Soulie JP, Baudouin M, Demaille J and Pellestor F (2003) Sequential multiple probe fluorescence in-situ hybridization analysis of human oocytes and polar bodies by combining centromeric labelling and whole chromosome painting. Mol Hum Reprod 9,577-585.
5. Angell RR (1991) Predivision in human oocytes at meiosis I: a mechanism for trisomy formation in man. Hum Genet 86,383-387.
6. Angell RR (1995) Mechanism of chromosome nondisjunction in human oocytes. Prog Clin Biol Res 393,13-26.
7. Angell RR (1997) First-meiotic-division nondisjunction in human oocytes. Am J Hum Genet 61,23-32.
8. Angell RR, Ledger W, Yong EL, Harkness L and Baird DT (1991) Cytogenetic analysis of unfertilized human oocytes. Hum Reprod 6,568-573.
9. Angell RR, Xian J and Keith J (1993) Chromosome anomalies in human oocytes in relation to age. Hum Reprod 8,1047-1054.
10. Antonarakis SE, Lewis JG, Adelsberger PA, Petersen MB, Schinzel AA, Binkert F, Schmid W, Pangalos C, Raoul O, Chakravard A et al. (1991) Parental origin of the extra chromosome in trisomy 21 as indicated by analysis of DNA polymorphisms. New Engl J Med 324,872-876.
11. Araki K, Naito K, Haraguchi S, Suzuki R, Yokoyama M, Inoue N, Aizawa S, Toyoda Y and Sato E (1996) Meiotic abnormalities of c-mos knockout mouse oocytes: activation after first meiosis or entrance into third meiotic metaphase. Biol Reprod 55,1315-1324.
12. Asch R, Simerly C, Ord T, Ord VA and Schatten G (1995) The stages at which human fertilization arrests: microtubule and chromosome configurations in inseminated oocytes which failed to complete fertilization and development in humans. Hum Reprod 10,1897-1906.
13. Balakier H and Casper RF (1991) A morphologic study of unfertilized oocytes and abnormal embryos in human in vitro fertilization. J In Vitro Fertil Embryo Transfer 8,73-79.
14. Balakier H, Bouman D, Sojecki A, Librach C and Squire JA (2002) Morphological and cytogenetic analysis of human giant oocytes and giant embryos. Hum Reprod 17,2394-2401.
15. Bandyopadhyay R, Heller A, Knox-Dubois C, McCaskill C, Berend SA, Page SL and Shaffer LG (2002) Parental origin and timing of de novo Robertsonian translocation formation. Am J Hum Genet 71,1456-1462.
16. Battaglia DE, Goodwin P, Klein NA and Soules MR (1996) Influence of maternal age on meiotic spindle assembly in oocytes from naturally cycling women. Hum Reprod 11,2217-2222.
17. Bean CJ, Hassold TJ, Judis L and Hunt PA (2002) Fertilization in vitro increases non-disjunction during early cleavage divisions in a mouse model system. Hum Reprod 17,2362-2367.
18. Benzacken B, Martin-Pont B, Bergere M, Hugues JN, Wolf JP and Selva J (1998) Chromosome 21 detection in human oocyte fluorescence in situ hybridization: possible effect of maternal age. J Assist Reprod Genet 15,105-110.
19. Bermudez MG, Wells D, Malter H, Munne S, Cohen J and Steuerwald NM (2004) Expression profiles of individual human oocytes using microarray technology. Reprod Biomed Online 8,325-337.
20. Bickel SE, Orr-Weaver TL and Balicky EM (2002) The sister-chromatid cohesion protein ORD is required for chiasma maintenance in Drosophila oocytes. Curr Biol 12,925-929.
21. Bongso A, Chye NS, Ratnam S, Sathananthan H and Wong PC (1988) Chromosome anomalies in human oocytes failing to fertilize after insemination in vitro. Hum Reprod 3,645-649.
22. Braude P, Pickering S, Flinter F and Ogilvie CM (2002) Preimplantation genetic diagnosis. Nat Rev Genet 3,941-953.
23. Calafell JM, Badenas J, Egozeue J and Santato J (1991) Premature chromosome condensation as a sign of oocyte immaturity. Hum Reprod 6,1017-1021.
24. Chandley AC (1971) Culture of mammalian oocytes. J Reprod Fertil Suppl 14,1-6.
25. Cheng EY, Chen YJ, Bonnet G and Gartler SM (1998) An analysis of meiotic pairing in trisomy 21 oocytes using fluorescent in situ hybridization. Cytogenet Cell Genet 80,48-53.
26. Chudoba I, Hickmann G, Friedrich T, Jauch A, Kozlowski P and Senger G (2004) mBAND: a high resolution multicolor banding technique for the detection of complex intrachromosomal aberrations. Cytogenet Genome Res 104,390-393.
27. Clyde JM, Gosden RG, Rutherford AJ and Picton HM (2001) Demonstration of a mechanism of aneuploidy in human oocytes using Multifluor fluorescence in situ hybridization. Fertil Steril 76,837-840.
28. Clyde JM, Hogg JE, Rutherford AJ and Picton HM (2003) Karyotyping of human metaphase II oocytes by multifluor fluorescence in situ hybridization. Fertil Steril 80,1003-1011.
29. Colledge WH, Carlton MB, Udy GB and Evans MJ (1994) Disruption of c-mos causes parthenogenetic development of unfertilized mouse eggs. Nature 370,65-68.
30. Coonen E, Derhaag JG, Dumoulin JC, Van Wissen LC, Bras M, Janssen M, Evers JL and Geraedts JP (2004) Anaphase lagging mainly explains chromosomal mosaicism in human preimplantation embryos. Hum Reprod 19,316-324.
31. Cupisti S, Conn CM, Fragouli E, Whalley K, Mills JA, Faed MJ and Delhanty JD (2003) Sequential FISH analysis of oocytes and polar bodies reveals aneuploidy mechanisms. Prenat Diagn 23,663-668.
32. Dailey T, Dale B, Cohen J and Munné S (1996) Association between nondisjunction and maternal age in meiosis-II human oocytes. Am J Hum Genet 59,176-184.
33. De Sutter P, Dhont M, Vanluchene E and Vandekerckhove D (1991a) Correlations between follicular fluid steroid analysis and maturity and cytogenetic analysis of human oocytes that remained unfertilized after in vitro fertilization. Fertil Steril 55,958-963.
34. De Sutter P, Dhont M, Verschraegen-Spae MR, Steyaert H, Corijn W, Leroy J and Vandekerckhove D (1991b) Chromosome analysis in human oocytes unfertilized in vitro: a mathematical model for the estimation of the first meiotic non-disjunction frequency. Hum Reprod 6,550-554.
35. De Sutter P, Dhont M and Vandekerckhove D (1992) Homonal stimulation for in vitro fertilization: a comparison of fertilization rates and cytogenetic findings in unfertilized oocytes. J Assist Reprod Genet 9,254-258.
36. Delhanty JD and Penketh RJ (1990) Cytogenetic analysis of unfertilized oocytes retrieved after treatment with the LHRH analogue, buserelin. Hum Reprod 5,699-702.
37. Djalali M, Rosenbusch B, Wolf M and Sterzik K (1988) Cytogenetics of unfertilized human oocytes. J Reprod Fertil 84,647-652.
38. Durban M, Benet J, Boada M, Fernandez E, Calafell JM, Lailla JM, Sanchez-Garcia JF, Pujol A, Egozcue J and Navarro J (2001) PGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis. Hum Reprod Update 7,591-602.
39. Dyban A, Freidine M, Severova E, Cieslak J, Ivakhnenko V and Verlinsky Y (1996) Detection of aneuploidy in human oocytes and corresponding first polar bodies by fluorescent in situ hybridization. J Assist Reprod Genet 13,73-78.
40. Eaker S, Pyle A, Cobb J and Handel MA (2001) Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonian chromosome heterozygous mice. J Cell Sci 114,2953-2965.
41. Eckel H, Kleinstein J, Wieacker P and Stumm M (2003) Multi-locus (ML)-FISH is a reliable tool for nondisjunction studies in human oocytes. Cytogenet Genome Res 103,47-53.
42. Edirisinghe WR, Munch AR and Yovich JL (1992) Cytogenetic analysis of human oocytes and embryos in an in-vitro fertilization programme. Hum Reprod 7,230-236.
43. Edwards RG (1965) Maturation in vitro of mouse, sheep, cow, pig, rhesus monkey and human ovarian oocytes. Nature 208,349-351.
44. Eggermann T, Nöthen MM, Eiben B et al. (1996) Trisomy of human chromosome 18: molecular studies on parental origin and cell stage of nondisjunction. Hum Genet 97,218-223.
45. Egozcue J, Blanco J and Vidal F (1997) Chromosome studies in human sperm nuclei using fluorescence in-situ hybridization (FISH). Hum Reprod Update 3,441-452.
46. Eichenlaub-Ritter U (1998) Genetics of oocyte ageing. Maturitas 30,143-169.
47. Eichenlaub-Ritter U and Boll I (1989) Nocodazole sensitivity, age-related aneuploidy, and alterations in the cell cycle during maturation of mouse oocytes. Cytogenet Cell Genet 52,170-176.
48. Eichenlaub-Ritter U, Chandley AC and Gosden RG (1986) Alterations to the microtubular cytoskeleton and increased disorder of chromosome alignment in spontaneously ovulated mouse oocytes aged in vivo: an immunofluorescence study. Chromosoma 94,337-345.
49. Findlay I, Corby N, Rutherford A and Quirke P (1998) Comparison of FISH PRINS, and conventional and fluorescent PCR for single-cell sexing: suitability for preimplantation genetic diagnosis. J Assist Reprod Genet 15,258-265.
50. Ford JH and Lester P (1982) Factors affecting the displacement of chromosomes from the metaphase plate. Cytogenet Cell Genet 33,327-332.
51. Funaki K and Mikamo K (1980) Giant diploid oocytes as a cause of digynic triploidy in mammals. Cytogenet Cell Genet 28,158-168.
52. Gaulden ME (1992) Maternal age effect: the enigma of Down syndrome and other trisomic conditions. Mutat Res 296,69-88.
53. Gifford DJ, Fleetham JA, Mahadevan MM, Taylor PJ and Schultz GA (1987) Protein synthesis in mature human oocytes. Gamete Res 18,97-107.
54. Gougeon A (1981) Frequent occurrence of multiovular follicles and multinuclear oocytes in the adult human ovary. Fertil Steril 35,417-422.
55. Gras L, McBain J, Trounson A and Kola I (1992) The incidence of chromosomal aneuploidy in stimulated and unstimulated (natural) uninseminated human oocytes. Hum Reprod 7,1396-1401.
56. Gutiérrez-Mateo C, Wells D, Benet J, Sanchez-Garcia JF, Bermudez MG, Belil I, Egozcue J, Munné S and Navarro J (2004) Reliability of comparative genomic hybridization to detect chromosome abnormalities in first polar bodies and metaphase II oocytes. Hum Reprod 19,2118-2125.
57. Guttenbach M, Engel W and Schmid M (1997) Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. A review. Hum Genet 100,1-21.
58. Hale DW (1995) Premeiotic nondisjunction as a source of aneuploid meiocytes. gametes, and offspring. Abstracts of the 32nd Annual American Cytogenetics Conference. Cytogenet Cell Genet 69,121.
59. Harper JC and Wells D (1999) Recent advances and future developments in PGD. Prenat Diagn 19,1193-1199.
60. Hassold T and Chiu D (1985) Maternal age specific rates of numerical chromosome abnormalities with special reference to trisomy. Hum Genet 70,11-17.
61. Hassold T and Hunt P (2001) To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet 2,280-291.
62. Hassold T and Jacobs PA (1984) Trisomy in man. Annu Rev Genet 18,69-97.
63. Hassold T, Chen N, Funkhouser J, Jooss T, Manuel B, Matsuura J, Matsuyama A, Wilson C, Yamane JA and Jacobs PA (1980) A cytogenetic study of 1000 spontaneous abortions. Ann Hum Genet 44,151-178.
64. Hassold T, Hunt PA and Sherman S (1993) Trisomy in humans: incidence, origin and etiology. Curr Opin Genet Dev 3,398-403.
65. Hassold T, Merrill M, Adkins K, Freeman S and Sherman S (1995) Recombination and maternal age-related non-disjunction: molecular studies of trisomy 16. Am J Hum Genet 57,867-874.
66. Hawley RS, Frazier JA and Rasooly R (1994) Separation anxiety: the etiology of nondisjunction in flies and people. Hum Mol Genet 3,1521-1528.
67. Hill DL (2003) Aneuploidy screening of preimplantation embryos using comparative genomic hybridization versus fluorescence in situ hybridization techniques. Fertil Steril 80,873-874.
68. Hindkjaer J, Koch J, Terkelsen C, Brandt CA, Kolvraa S and Bolund L (1994) Fast, sensitive multicolor detection of nucleic acids in situ by PRimed IN Situ labeling (PRINS). Cytogenet Cell Genet 66,152-154.
69. Hodges CA, Ilagan A, Jennings D, Keri R, Nilson J and Hunt PA (2002) Experimental evidence that changes in oocyte growth influence meiotic chromosome segregation. Hum Reprod 17,1171-1180.
70. Honda N, Miharu N, Hara T, Samura O, Honda H and Ohama K (2002) Chromosomal FISH analysis of unfertilized human oocytes and polar bodies. J Hum Genet 47,488-491.
71. Hultén MA (1990) The origin of aneuploidy: bivalent instability and the maternal age effect in trisomy 21 Down syndrome. Am J Med Genet 7,160-161.
72. Hunt P, LeMaire R, Embury P, Sheean L and Mroz K (1995) Analysis of chromosome behavior in intact mammalian oocytes: monitoring the segregation of a univalent chromosome during female meiosis. Hum Mol Genet 4,2007-2012.
73. Jacobs PA (1992) The chromosome complement of human gametes. Oxf Rev Reprod Biol 14,47-72.
74. Jacobs PA, Hassold TJ, Henry A, Pettay D and Takaesu N (1987) Trisomy 13 ascertained in a survey of spontaneous abortions. J Med Genet 24,721-724.
75. Jagiello G, Karnicki J and Ryan RJ (1968) Superovulation with pituitary gonadotrophins method for obtaining meiotic metaphase figures in human ova. Lancet ii,178-180.
76. Jagiello G, Ducayen M, Fang JS and Greffeo J (1976) Cytogenetic observations in mammalian oocytes. In Pearson PL and Lewis KR (eds) Chromosomes Today, vol 5. John Wiley & Sons, New York, pp 43-63.
77. Kamiguchi Y, Rosenbusch B, Sterzik K and Mikamo K (1993) Chromosomal analysis of unfertilized human oocytes prepared by a gradual fixation-air drying method. Hum Genet 90,533-541.
78. Kline J, Kinney A, Levin B and Warburton D (2000) Trisomic pregnancy and earlier age at menopause. Am J Hum Genet 67,395-404.
79. Kola I, Lacham O, Jansen RP, Turner M and Trounson A (1990) Chromosomal analysis of human oocytes fertilized by microinjection of spermatozoa into the perivitelline space. Hum Reprod 5,575-577.
80. Kondoh T, Tonoki H, Matsumpto T, Matsumoto T, Tsukahara M and Niikawa N (1988) Origin of the extra chromosome in trisomy 18: a study on five patients using a restriction fragment length polymorphism. Hum Genet 79,377-378.
81. Kuliev A and Verlinsky Y (2004) Meiotic and mitotic nondisjunction: lessons from preimplantation genetic diagnosis. Hum Reprod Update 10,401-407.
82. Kuliev A, Cieslak J, Ilkevitch Y and Verlinsky Y (2003) Chromosomal abnormalities in a series of 6,733 human oocytes in preimplantation diagnosis for age-related aneuploidies. Reprod Biomed Online 6,54-59.
83. Lamb NE, Freeman SB, Savage-Austin A, Pettay D, Taft L, Hersey J, Gu Y, Shen J, Saker D, May KM et al. (1996) Susceptible chiasmate configurations of chromosome 21 predispose to non-disjunction in both maternal meiosis I and meiosis II errors. Nature Genet 14,400-405.
84. Lansdorp PM, Verwoerd NP, Van de Rijke FM, Dragowska V, Little MT, Dirks RW, Raap AK and Tanke HJ (1996) Heterogeneity in telomere length of human chromosomes. Hum Mol Genet 5,685-691.
85. LeMaire-Adkins R, Radke K and Hunt PA (1997) Lack of checkpoint control at the metaphase/anaphase transition: a mechanism of meiotic nondisjunction in mammalian females. J Cell Biol 139,1611-16119.
86. Lim AS, Ho AT and Tsakok MF (1995) Chromosomes of oocytes failing in-vitro fertilization. Hum Reprod 10,2570-2575.
87. Lo AW, Liao GC, Rocchi M and Choo KH (1999) Extreme reduction of chromosome-specific alpha-satellite array is unusually common in human chromosome 21. Genome Res 9,895-908.
88. Ma S, Kalousek DK, Zouves C, Yuen BH, Gomel V and Moon YS (1989) Chromosome analysis of human oocytes failing to fertilize in vitro. Fertil Steril 51,992-997.
89. Ma S, Kalousek DK, Yuen BH, Gomel V, Katagiri S and Moon YS (1994) Chromosome investigation in in vitro fertilization failure. J Assist Reprod Genet 11,445-451.
90. Macas E, Floersheim Y, Hotz E, Imthurn B, Keller PJ and Walt H (1990) Abnormal chromosomal arrangements in human oocytes. Hum Reprod 5,703-707.
91. Mahmood R, Brierley CH, Faed MJ, Mills JA and Delhanty JD (2000) Mechanisms of maternal aneuploidy: FISH analysis of oocytes and polar bodies in patients undergoing assisted conception. Hum Genet 106,620-626.
92. Maratou K, Siddique Y, Kessling AM and Davies GE (2000) Variation in alphoid DNA size and trisomy 21: a possible cause of nondisjunction. Hum Genet 106,525-530.
93. Marquez C, Cohen J and Munné S (1998) Chromosome identification in human oocytes and polar bodies by spectral karyotyping. Cytogenet Cell Genet 81,254-258.
94. Martin RH (1984) Comparison of chromosomal abnormalities in hamster egg and human sperm pronuclei. Biol Reprod 31,819-825.
95. Martin RH, Mahadevan MM, Taylor PJ, Hildebrand K, Long-Simpson L, Peterson D, Yamamoto J and Fleetham J (1986) Chromosomal analysis of unfertilized human oocytes. J Reprod Fertil 78,673-678.
96. Martin RH, Rademaker AW, Hildebrand K, Long-Simpson L, Peterson D and Yamamoto J (1987) Variation in the frequency and type of sperm chromosomal abnormalities among normal men. Hum Genet 77,108-1014.
97. Martini E, Flaherty SP, Swann NJ, Payne D and Matthews CD (1997) Analysis of unfertilized oocytes subjected to intracytoplasmic sperm injection using two rounds of fluorescence in-situ hybridization and probes to five chromosomes. Hum Reprod 12,2011-2018.
98. Martini E, Flaherty SP, Swann NJ, Matthews CD, Ramaekers FC and Geraedts JP (2000) FISH analysis of six chromosomes in unfertilized human oocytes after polar body removal. J Assist Reprod Genet 17,276-283.
99. Matsuura S, Ito E, Tauchi H, Komatsu K, Ikeuchi T and Kajii T (2000) Chromosomal instability syndrome of total premature chromatid separation with mosaic variegated aneuploidy is defective in mitotic-spindle checkpoint. Am J Hum Genet 67,483-486.
100. Michaeli G, Fejgin M, Ghetler Y, Ben Nun I, Beyth Y and Amiel A (1990) Chromosomal analysis of unfertilized oocytes and morphologically abnormal preimplantation embryos from an in vitro fertilization program. J In Vitro Fertil Embryo Transfer 7,341-346.
101. Michaelis C, Ciosk R and Nasmyth K (1997) Cohesins: chromosomal proteins that prevent premature separation of sister chromatids. Cell 91,35-45.
102. Michelmann HW and Mettler L (1985) Cytogenetic investigations on human oocytes and early human embryonic stages. Fertil Steril 43,320-322.
103. Mikamo K and Kamiguchi Y (1983) Primary incidences of spontaneous chromosomal anomalies and their origins and causal mechanisms in the Chinese hamster. Mutat Res 108,265-278.
104. Munné S and Wells D (2003) Questions concerning the suitability of comparative genomic hybridization for preimplantation genetic diagnosis. Fertil Steril 80,871-872.
105. Munné S, Grifo J, Cohen J and Weier HUG (1994) Chromosome abnormalities in human arrested preimplantation embryos: a multiple-probe FISH study. Am J Hum Genet 55,150-159.
106. Munné S, Scott R, Sable D and Cohen J (1998) First pregnancies after preconception diagnosis of translocations of maternal origin. Fertil Steril 69,675-681.
107. Munné S, Escudero T, Sandalinas M, Sable D and Cohen J (2000) Gamete segregation in female carriers of Robertsonian translocations. Cytogenet Cell Genet 90,303-308.
108. Nakaoka Y, Okamoto E, Miharu N and Ohama K (1998) Chromosome analysis in human oocytes remaining unfertilized after in-vitro insemination: effect of maternal age and fertilization rate. Hum Reprod 13,419-424.
109. Nicolaidis P and Petersen MB (1998) Origin and mechanisms of non-disjunction in human autosomal trisomies. Hum Reprod 13,313-319.
110. Nielsen PE and Egholm M (1999) An introduction to peptide nucleic acid. Curr Issues Mol Biol 1,89-104.
111. Nishino T, Kamiguchi Y, Tateno H, Sengoku K and Ishikawa M (1994) A cytogenetic, study of human oocytes unfertilized in in-vitro fertilization (IVF). Nippon Sanka Fujinka Gakkai Zasshi 46,95-101.
112. Ohno M, Aoki N and Sasaki H (2001) Allele-specific detection of nascent transcripts by fluoresce,ce in situ hybridization reveals temporal and culture-induced changes in Idf2 imprinting during pre-implantation mouse development. Genes Cells 6,249-259.
113. Orsetti B, Lefort G, Boulot P, Andreo B and Pellestor F (1998) Fetal cells in maternal blood: the use of primed in situ (PRINS) labelling technique for fetal cell detection and sex assessment. Prenat Diagn 18,1014-1022.
114. Page SL and Shaffer LG (1997) Nonhomologous Robertsonian translocations form predominantly during female meiosis. Nat Genet 15,231-232.
115. Papadopoulos G, Randall J and Templeton AA (1989) The frequency of chromosome anomalies in human unfertilized oocytes and uncleaved zygotes after insemination in vitro. Hum Reprod 4,568-573.
116. Pardo-Manuel de Villena F and Sapienza C (2001) Nonrandom segregation during meiosis: the unfairness of females. Mamm Genome 12,331-339.
117. Paulasova P, Andreo B, Diblik J, Macek M and Pellestor F (2004) The peptide nucleic acids as probes for chromosomal analysis: application to human oocytes, polar bodies and preimplantation embryos. Mol Hum Reprod 10,467-472.
118. Payne D, Flaherty SP, Barry MF and Matthews CD (1997) Preliminary observations on polar body extrusion and pronuclear formation in human oocytes using time-palse video cinematography. Hum Reprod 12,532-541.
119. Pellestor F (1991) Frequency and distribution of aneuploidy in human female gametes. Hum Genet 86,283-288.
120. Pellestor F and Paulasova P (2004) The peptide nucleic, acids (PNAs): introduction to a new class of probes for chromosomal investigation. Chromosoma 112,375-380.
121. Pellestor F and Sele B (1988) Assessment of aneuploidy in the human female by using cytogenetics of IVF failures. Am J Hum Genet 42,274-283.
122. Pellestor F, Dufour MC, Arnal F and Humeau C (1993) A simplified method for R banding of human oocyte chromosomes. Hum Reprod 8,604-608.
123. Pellestor F, Girardet A, Andreo B and Charlieu JP (1994) A polymorphic alpha satellite sequence specific for human chromosome 13 detected by oligonucleotide primed in situ labelling (PRINS). Hum Genet 94,346-348.
124. Pellestor F, Girardet A, Lefort G, Andreo B and Charlieu JP (1996) Rapid chromosome detection in human gametes, zygotes, and preimplantation embryos using the PRINS technique. J Assist Reprod Genet 13,675-680.
125. Pellestor F, Andreo B and Coullin P (1999) Interphasic analysis of aneuploidy in cancer cell lines using primed in situ labeling. Cancer Genet Cytogenet 111,111-118.
126. Pellestor F, Andreo B, Arnal F, Humeau C and Demaille J (2002) Mechanisms of non-disjunction in human female meiosis: the co-existence of two modes of malsegregation evidenced by the karyotyping of 1397 in-vitro unfertilized oocytes. Hum Reprod 17,2134-2145.
127. Pellestor F, Andreo B, Arnal F, Humeau C and Demaille J (2003a) Maternal aging and chromosomal abnormalities: new data drawn from in vitro unfertilized human oocytes. Hum Genet 112,195-203.
128. Pellestor F, Andreo B, Taneja K and Williams B (2003b) PNA on human sperm: a new approach for in situ aneuploidy estimation. Eur J Hum Genet 11,337-341.
129. Pellestor F, Anahory T, Andreo B, Regnier-Vigouroux G, Soulie JP, Baudouin M and Demaille J (2004a) Fast multicolor primed in situ protocol for chromosome identification in isolated cells may be used for human oocytes and polar bodies. Fertil Steril 81,408-415.
130. Pellestor F, Paulasova P, Macek M and Hamamah S (2004b) The peptide nucleic acids: a new way for chromosomal investigation on isolated cells? Hum Reprod 19,1946-1951.
131. Pieters MH, Geraedts JP, Dumoulin JC, Evers JL, Bras M, Kornips FH and Menheere PP (1989) Cytogenetic analysis of in vitro fertilization (IVF) failures. Hum Genet 81,367-370.
132. Pieters MH, Dumoulin JC, Engelhart CM, Bras M, Evers JL and Geraedts JP (1991) Immaturity and aneuploidy in human oocytes after different stimulation protocols. Fertil Steril 56,306-310.
133. Plachot M (1997) The human oocyte. Genetic aspects. Ann Genet 40,115-120.
134. Plachot M (2003) Genetic analysis of the oocyte - a review. Placenta 24 (Suppl B), S66-S69.
135. Plachot M, Junca AM, Mandelbaum J, de Grouchy J, Salat-Baroux J and Cohen J (1986) Chromosome investigations in early life I. Human oocytes recovered in an IVF programme. Hum Reprod 1,547-551.
136. Plachot M, de Grouchy J, Junca AM, Mandelbaum J, Salat-Baroux J and Cohen J (1988) Chromosome analysis of human oocytes and embryos: does delayed fertilization increase chromosome imbalance? Hum Reprod 3,125-127.
137. Pujol A, Boiso I, Benet J, Veiga A, Durban M, Campillo M, Egozcue J and Navarro J (2003a) Analysis of nine chromosome probes in first polar bodies and metaphase II oocytes for the detection of aneuploidies. Eur J Hum Genet 11,325-336.
138. Pujol A, Durban M, Benet J, Boiso I, Calafell JM, Egozcue J and Navarro J (2003b) Multiple aneuploidies in the oocytes of balanced translocation carriers: a preimplantation genetic diagnosis study using first polar body. Reproduction 126,701-711.
139. Racowsky C and Kaufman M (1992) Nuclear degeneration and meiotic aberrations observed in human oocytes matured in vitro: analysis by light microscopy. Fertil Steril 58,750-755.
140. Revenkova E, Eijpe M, Heyting C, Hodges CA, Hunt PA, Liebe B, Scherthan H and Jessberger R (2004) Cohesin SMC1 beta is required for meiotic chromosome dynamics, sister chromatid cohesion and DNA recombination. Nat Cell Biol 6,555-562.
141. Roberts CG and O'Neill C (1995) Increase in the rate of diploidy with maternal age in unfertilized in-vitro fertilization oocytes. Hum Reprod 10,2139-2141.
142. Robinson WP, Kuchinka BD, Bernasconi F, Petersen MB, Schulze A, Brondum-Nielsen K, Christian SL, Ledbetter DH, Schinzel AA, Horsthemke B et al. (1998) Maternal meiosis I non-disjunction of chromosome 15: dependence of the maternal age effect on level of recombination. Hum Mol Genet 7,1011-1019.
143. Rosenbusch B, Sterzik K, Sasse V, Djalali M and Lauritzen C (1992) Type and incidence of cytogenetic abnormalities in unfertilized or uncleaved human oocytes within the scope of in vitro fertilization. Zentralbl Gynakol 114,181-185.
144. Rosenbusch B, Schneider M, Gläser B and Brucker C (2002) Cytogenetic analysis of giant oocytes and zygotes to assess their relevance for the development of digynic triploidy. Hum Reprod 17,2388-2393.
145. Sandalinas M, Marquez C and Munné S (2002) Spectral karyotyping of fresh, non-inseminated oocytes. Mol Hum Reprod 8,580-585.
146. Schröck E, du Manoir S, Veldman T, Schoell B, Wienberg J, Ferguson-Smith MA, Ning Y, Ledbetter DH, Bar-Am I, Soenksen D et al. (1996) Multicolor spectral karyotyping of human chromosomes. Science 273,494-497.
147. Selva J, Martin-Pont B, Hugues JN, Rince P, Fillion C, Herve F, Tamboise A and Tamboise E (1991) Cyrogenetic study of human oocytes uncleaved after in-vitro fertilization. Hum Reprod 6,709-713.
148. Sengoku K, Tamate K, Takuma N, Yoshida T, Goishi K and Ishikawa M (1997) The chromosomal normality of unfertilized oocytes from patients with polycystic ovarian syndrome. Hum Reprod 12,474-477.
149. Serakinci N and Koch J (1999) Detection and sizing of telomeric repeat DNA in situ. Nat Biotechnol 17,200-201.
150. Shaffer LG and Bejjani BA (2004) A cytogeneticist's perspective on genomic microarrays. Hum Reprod Update 10,221-226.
151. Shi Q and Martin RH (2000) Aneuploidy in human sperm: a review of the frequency and distribution of aneuploidy, effects of donor age and life-style factors. Cytogenet Cell Genet 90,219-226.
152. Soewarto D, Schmiady H and Eichenlaub-Ritter U (1995) Consequences of non-extrusion of the first polar body and control of the sequential segregation of homologues and chromatids in mammalian oocytes. Hum Reprod 10,2350-2360.
153. Speicher MR, Gwyn Ballard S and Ward DC (1996) Karyotyping human chromosomes by combinatorial multi-fluor FISH. Nat Genet 12,368-375.
154. Spielmann H, Kruger C, Stauber M and Vogel R (1985) Abnormal chromosome behavior in human oocytes which remained unfertilized during human in vitro fertilization. J In Vitro Fert Embryo Transfer 2,138-142.
155. Steuerwald N, Cohen J, Herrera RJ, Sandalinas M and Brenner CA (2001) Association between spindle assembly checkpoint expression and maternal age in human oocytes. Mol Hum Reprod 7,49-55.
156. Taneja KL, Chavez EA, Coull J and Lansdorp PM (2001) Multicolor fluorescence in situ hybridization with peptide nucleic acid probes for enumeration of specific chromosomes in human cells. Genes Chromosomes Cancer 30,57-63.
157. Tarín JJ (1996) Potential effects of age-associated oxidative stress on mammalian oocytes/embryos. Mol Hum Reprod 2,717-724.
158. Tarín JJ and Pellicer A (1990) Consequences of high ovarian response to gonadotropins: a cytogenetic analysis of unfertilized human oocytes. Fertil Steril 54,665-670.
159. Tarín JJ, Gomez E, Sampaio M, Ruiz M, Remohi J and Pellicer A (1991a) Cytogenetic analysis of human oocytes from fertile women. Hum Reprod 6,1100-1103.
160. Tarín JJ, Ruiz A, Miro F, Bonilla-Musoles F and Pellicer A (1991b) Failed in vitro fertilization of human oocytes: a cytogenetic analysis. Fertil Steril 56,290-295.
161. Tarkowski A (1966) An air-drying method for chromosome preparation from mouse eggs. Cytogenetics 5,394-400.
162. Tejada MI, Mendoza R, Corcostegui B and Benito JA (1991) Chromosome studies in human unfertilized oocytes and uncleaved zygotes after treatment with gonadotropin-releasing hormone analogs. Fertil Steril 56,874-880.
163. Tejada MI, Mendoza MR, Corcostegui B and Benito JA (1992) Factors associated with premature chromosome condensation (PCC) following in vitro fertilization. J Assist Reprod Genet 9,61-67.
164. Trussler JL, Pickering SJ and Ogilvie CM (2004) Investigation of chromosomal imbalance in human embryos using comparative genomic hybridization. Reprod Biomed Online 8,701-711.
165. Van Blerkom J and Henry G (1988) Cytogenetic analysis of living human oocytes: cellular basis and developmental consequences of perturbations in chromosomal organization and complement. Hum Reprod 3,777-790.
166. Van Blerkom J and Henry G (1992) Oocyte dysmorphism and aneuploidy in meiotically mature human oocytes after ovarian stimulation. Hum Reprod 7,379-390.
167. Van Blerkom J, Davis PW and Lee J (1995) ATP content of human oocytes and developmental potential and outcome after in-vitro fertilization and embryo tranfer. Hum Reprod 10,415-424.
168. Van Blerkom J, Antczak M and Schrader R (1997) The developmental potential of the human oocyte is related to the dissolved oxygen content of follicular fluid: association with vascular endothelial growth factor levels and perifollicular blood flow characteristics. Hum Reprod 12,1047-1055.
169. Veiga A, Calderon G, Santalo J, Barri PN and Egozcue J (1987) Chromosome studies in oocytes and zygotes from an IVF programme. Hum Reprod 2,425-430.
170. Verlinsky Y and Kuliev A (2003) Preimplantation diagnosis for aneuploidies using fluorescence in situ hybridization or comparative genomic hybridization. Fertil Steril 80,869-870.
171. Verlinsky Y, Cieslak J, Ivakhnenko V, Lifchez A, Strom C and Kuliev A (1996) Birth of healthy children after preimplantation diagnosis of common aneuploidies by polar body fluorescent in situ hybridization analysis. Fertil Steril 66,126-129.
172. Verlinsky Y, Cieslak J, Ivakhnenko V, Evsikov S, Wolf G, White M, Lifchez A, Kaplan B, Moise J, Valle J et al. (1998) Prepregnancy genetic testing for age-related aneuploidies by polar body analysis. Genet Testing 1,231-235.
173. Verlinsky Y, Cieslak J, Ivakhnenko V, Evsikov S, Wolf G, White M, Lifchez A, Kaplan B, Moise J, Valle J et al. (1999) Prevention of age-related aneuploidies by polar body testing of oocytes. J Assist Reprod Genet 16,165-169.
174. Volarcik K, Sheean L, Goldfarb J, Woods L, Abdul Karim FW and Hunt P (1998) The meiotic competence of in vitro matured human oocytes is influenced by donor age: evidence that folliculogenesis is compromised in the reproductively aged ovary. Hum Reprod 13,154-160.
175. Voullaire L, Wilton L, Slater H and Williamson R (1999) Detection of aneuploidy in single cells using comparative genomic hybridization. Prenat Diagn 19,846-851.
176. Voullaire L, Slater H, Williamson R and Wilton L (2000) Chromosome analysis of blastomeres from human embryos by using comparative genomic hybridization. Hum Genet 106,210-217.
177. Wall MB, Marks K, Smith TA, Gearon CM and Muggleton-Harris AL (1996) Cytogenetic and fluorescent in-situ hybridization chromosomal studies on in-vitro fertilized and intracytoplasmic sperm injected 'failed-fertilized' human oocytes. Hum Reprod 11,2230-2238.
178. Warburton D (1989) The effect of maternal age on the frequency of trisomy: change in meiosis or in utero selection? Prog Clin Biol Res 311,165-181.
179. Warburton D (1997) Human female meiosis: new insights into an error-prone process. Am J Hum Genet 61,1-4.
180. Warburton D and Kinney A (1996) Chromosomal differences in susceptibility to meiotic aneuploidy. Environ Mol Mutagen 28,237-247.
181. Wells D, Sherlock JK, Handyside AH and Delhanty JD (1999) Detailed chromosomal and molecular genetic analysis of single cells by whole genome amplification and comparative genomic hybridisation. Nucleic Acids Res 27,1214-1218.
182. Wells D, Escudero T, Levy B, Hirschhorn K, Delhanty JD and Munne S (2002) First clinical application of comparative genomic hybridization and polar body testing for preimplantation genetic diagnosis of aneuploidy. Fertil Steril 78,543-549.
183. Wilcox AJ, Weinberg CR and Baird DD (1998) Post-ovulatory ageing of the human oocyte and embryo failure. Hum Reprod 13,394-397.
184. Williams RRE and Fisher AG (2003) Chromosomes, position please! Nature Cell Biol 5,388-390.
185. Wilton L, Voullaire L, Sargeant P, Williamson R and McBain J (2003) Preimplantation aneuploidy screening using comparative genomic hybridization or fluorescence in situ hybridization of embryos from patients with recurrent implantation failure. Fertil Steril 80,860-868.
186. Wolstenholme J and Angell RR (2000) Maternal age and trisomy - a unifying mechanism of formation. Chromosoma 109,435-438.
187. Wramsby H and Fredga K (1987) Chromosome analysis of human oocytes failing to cleave after insemination in vitro. Hum Reprod 2,137-142.
188. Wramsby H and Liedholm P (1984) A gradual fixation method for chromosomal preparations of human oocytes. Fertil Steril 41,736-738.
189. Wramsby H, Hansson A and Liedholm P (1982) Chromosome preparations from in vitro matured human oocytes using a simple air-drying technique. Clin Reprod Fertil 1,323-326.
190. Wramsby H, Fredga K and Liedholm P (1987) Chromosome analysis of human oocytes recovered from preovulatory follicles in stimulated cycles. N Engl J Med 316,121-124.
191. Yuncken C (1968) Meiosis in the human female. Cytogenetics 7,234-238.
192. Zenzes MT and Casper RF (1992) Cytogenetics of human oocytes, zygotes, and embryos after in vitro fertilization. Hum Genet 88,367-375.
193. Zenzes MT, Wang P and Casper RF (1995) Cigarette smoking may affect meiotic maturation of human oocytes. Hum Reprod 10,3213-3217.
194. Zheng CJ and Byers B (1992) Oocyte selection: a new model for the maternal-age dependence of Down syndrome. Hum Genet 90,1-6.