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Volumn 36, Issue 1, 1999, Pages 45-50

Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism

Author keywords

Down syndrome; Gonadal mosaicism; Preimplantation genetic diagnosis; Reciprocal translocation

Indexed keywords

ANEUPLOIDY; ARTICLE; BIOPSY; CHROMOSOME MOSAICISM; CLINICAL ARTICLE; CONTROLLED STUDY; DOWN SYNDROME; EMBRYO; EMBRYO TRANSFER; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN TISSUE; MEIOSIS; PREGNANCY; PREIMPLANTATION EMBRYO; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; TRISOMY 21;

EID: 0032908816     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (77)

References (32)
  • 1
    • 0014918152 scopus 로고
    • Genetic counselling in Down's syndrome
    • Mikkelsen M, Stene J. Genetic counselling in Down's syndrome. Hum Hered 1970;20:457-64.
    • (1970) Hum Hered , vol.20 , pp. 457-464
    • Mikkelsen, M.1    Stene, J.2
  • 2
    • 0026713576 scopus 로고
    • DNA polymorphism analysis in families with recurrence of free trisomy 21
    • Pangalos CG, Talbot CG, Lewis JG, et al. DNA polymorphism analysis in families with recurrence of free trisomy 21. Am J Hum Genet 1992;51:1015-27.
    • (1992) Am J Hum Genet , vol.51 , pp. 1015-1027
    • Pangalos, C.G.1    Talbot, C.G.2    Lewis, J.G.3
  • 3
    • 0030961054 scopus 로고    scopus 로고
    • Genetic diagnosis before implantation
    • Delhanty JDA, Wells D, Harper JC. Genetic diagnosis before implantation, BMJ 1997;315:828-9.
    • (1997) BMJ , vol.315 , pp. 828-829
    • Delhanty, J.D.A.1    Wells, D.2    Harper, J.C.3
  • 4
    • 0028061446 scopus 로고
    • Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridisation
    • Griffin D, Handyside AH, Harper JC, et al. Clinical experience with preimplantation diagnosis of sex by dual fluorescent in situ hybridisation. J Assist Reprod Genet 1994;11: 132-43.
    • (1994) J Assist Reprod Genet , vol.11 , pp. 132-143
    • Griffin, D.1    Handyside, A.H.2    Harper, J.C.3
  • 5
    • 0031009264 scopus 로고    scopus 로고
    • Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients
    • Delhanty JDA, Harper JC, Ao A, Handyside AH, Winston RML. Multicolour FISH detects frequent chromosomal mosaicism and chaotic division in normal preimplantation embryos from fertile patients. Hum Genet 1997;99:755-60.
    • (1997) Hum Genet , vol.99 , pp. 755-760
    • Delhanty, J.D.A.1    Harper, J.C.2    Ao, A.3    Handyside, A.H.4    Winston, R.M.L.5
  • 6
    • 0027730222 scopus 로고
    • Diagnosis of major aneuploidies in human preimplantation embryos
    • Munné S, Lee A, Rosenwaks Z, Grifo J, Cohen J. Diagnosis of major aneuploidies in human preimplantation embryos. Hum Reprod 1993;812:2185-91.
    • (1993) Hum Reprod , vol.812 , pp. 2185-2191
    • Munné, S.1    Lee, A.2    Rosenwaks, Z.3    Grifo, J.4    Cohen, J.5
  • 7
    • 0030498507 scopus 로고    scopus 로고
    • Simultaneous enumeration of chromosomes 13,18, 21, X and Y in interphase cells for preimplantation genetic diagnosis of aneuploidy
    • Munné S, Weier HUG. Simultaneous enumeration of chromosomes 13,18, 21, X and Y in interphase cells for preimplantation genetic diagnosis of aneuploidy. Cytogenet Cell Genet 1996;75:263-70.
    • (1996) Cytogenet Cell Genet , vol.75 , pp. 263-270
    • Munné, S.1    Weier, H.U.G.2
  • 8
    • 0030022057 scopus 로고    scopus 로고
    • Polar body diagnosis of common aneuploidies by FISH
    • Verlinsky Y, Cieslak J, Freidine M, et al. Polar body diagnosis of common aneuploidies by FISH. J Assist Reprod Genet 1996;132:157-62.
    • (1996) J Assist Reprod Genet , vol.132 , pp. 157-162
    • Verlinsky, Y.1    Cieslak, J.2    Freidine, M.3
  • 9
    • 25344462752 scopus 로고    scopus 로고
    • First pregnancies after polar body biopsy for testing of chromosome translocations
    • Munné S, Scott R, Berg P, Cohen J. First pregnancies after polar body biopsy for testing of chromosome translocations. Fertil Steril Suppl 1996;1:0-001.
    • (1996) Fertil Steril Suppl , vol.1 , pp. 0-001
    • Munné, S.1    Scott, R.2    Berg, P.3    Cohen, J.4
  • 10
    • 0031922774 scopus 로고    scopus 로고
    • Infertile couples with Robertsonian translocations: Preimplantation genetic analysis of embryos reveals chaotic cleavage divisions
    • Conn CM, Harper JC, Winston RML, Delhanty JDA. Infertile couples with Robertsonian translocations: preimplantation genetic analysis of embryos reveals chaotic cleavage divisions. Hum Genet 1998;102;117-23.
    • (1998) Hum Genet , vol.102 , pp. 117-123
    • Conn, C.M.1    Harper, J.C.2    Winston, R.M.L.3    Delhanty, J.D.A.4
  • 11
    • 0030864247 scopus 로고    scopus 로고
    • Carrier-specific breakpoint-spanning DNA probes: An approach to preimplantation genetic diagnosis in interphase cells
    • Cassel MJ, Munné S, Fung J, Weier HUG. Carrier-specific breakpoint-spanning DNA probes: an approach to preimplantation genetic diagnosis in interphase cells. Hum Reprod 1997;12:2019-27.
    • (1997) Hum Reprod , vol.12 , pp. 2019-2027
    • Cassel, M.J.1    Munné, S.2    Fung, J.3    Weier, H.U.G.4
  • 12
    • 0028205192 scopus 로고
    • Identification of the sex of human preimplantation embryos in two hours using an improved spreading method and fluorescent in-situ hybridisation (FISH) using directly labelled probes
    • Harper JC, Coonen E, Raemakers FCS, et al Identification of the sex of human preimplantation embryos in two hours using an improved spreading method and fluorescent in-situ hybridisation (FISH) using directly labelled probes. Hum Reprod 1994;9:721-4.
    • (1994) Hum Reprod , vol.9 , pp. 721-724
    • Harper, J.C.1    Coonen, E.2    Raemakers, F.C.S.3
  • 13
    • 0027956696 scopus 로고
    • FISH detection of trisomy 21 by the simultaneous use, of two differentially labelled cosmid contigs
    • Davies AF, Barber L, Murer-Orlando M, Bobrow M, Adinolfi M. FISH detection of trisomy 21 by the simultaneous use, of two differentially labelled cosmid contigs. J Med Genet 1994;31:679-85.
    • (1994) J Med Genet , vol.31 , pp. 679-685
    • Davies, A.F.1    Barber, L.2    Murer-Orlando, M.3    Bobrow, M.4    Adinolfi, M.5
  • 14
    • 0028917209 scopus 로고
    • Prenatal diagnosis of trisomy 21 using interphase fluoresence in situ hybridisation of post-replicated cells with site-specific cosmid and cosmid contig probes
    • Soloviev I, Yurov YB, Vorsanova G, Fayet F, Roizes G, Malet P. Prenatal diagnosis of trisomy 21 using interphase fluoresence in situ hybridisation of post-replicated cells with site-specific cosmid and cosmid contig probes. Prenat Diagn 1995;15:237-48.
    • (1995) Prenat Diagn , vol.15 , pp. 237-248
    • Soloviev, I.1    Yurov, Y.B.2    Vorsanova, G.3    Fayet, F.4    Roizes, G.5    Malet, P.6
  • 16
    • 0027272459 scopus 로고
    • High fertilisation and implantation rates after intracytoplasmic sperm injection
    • Van Steirteghem A, Nagy Z, Juris H, et al. High fertilisation and implantation rates after intracytoplasmic sperm injection. Hum Reprod 1993;8:1061-6.
    • (1993) Hum Reprod , vol.8 , pp. 1061-1066
    • Van Steirteghem, A.1    Nagy, Z.2    Juris, H.3
  • 17
    • 0003224299 scopus 로고
    • Biopsy of human cleavage stage embryos and sexing by DNA amplification
    • Verlinsky Y, Strom C, eds. New York: Plenum
    • Handyside AH. Biopsy of human cleavage stage embryos and sexing by DNA amplification. In: Verlinsky Y, Strom C, eds. Proceedings of the first symposium on preimplantation genetics. New York: Plenum, 1991:75-83.
    • (1991) Proceedings of the First Symposium on Preimplantation Genetics , pp. 75-83
    • Handyside, A.H.1
  • 19
    • 0000330352 scopus 로고
    • An air drying method for chromosome preparations from mouse eggs
    • Tarkowski AK, An air drying method for chromosome preparations from mouse eggs. Cytogenetics 1966;5:394- 400.
    • (1966) Cytogenetics , vol.5 , pp. 394-400
    • Tarkowski, A.K.1
  • 20
    • 0025832608 scopus 로고
    • Cloning and in vivo expression of the human GART gene using yeast artifical chromosomes
    • Gnirke A, Barnes TS, Patterson D, Schild D, Featherstone T, Olson M. Cloning and in vivo expression of the human GART gene using yeast artifical chromosomes. EMBO J 1991;10:1629-34.
    • (1991) EMBO J , vol.10 , pp. 1629-1634
    • Gnirke, A.1    Barnes, T.S.2    Patterson, D.3    Schild, D.4    Featherstone, T.5    Olson, M.6
  • 21
    • 0026458166 scopus 로고
    • Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in-situ hybridisation using a cosmid contig
    • Zheng YL, Ferguson-Smith MA, Warner JP, Ferguson-Smith ME, Sargent CA, Carter NT. Analysis of chromosome 21 copy number in uncultured amniocytes by fluorescence in-situ hybridisation using a cosmid contig. Prenat Diagn 1992;12:931-43.
    • (1992) Prenat Diagn , vol.12 , pp. 931-943
    • Zheng, Y.L.1    Ferguson-Smith, M.A.2    Warner, J.P.3    Smith, M.E.4    Sargent, C.A.5    Carter, N.T.6
  • 22
    • 0026725180 scopus 로고
    • Fluorescence in situ hybridisation of YAC clones after Alu-PCR amplification
    • Lengauer C, Green ED, Cremer T. Fluorescence in situ hybridisation of YAC clones after Alu-PCR amplification. Genomics 1992;13:826-8.
    • (1992) Genomics , vol.13 , pp. 826-828
    • Lengauer, C.1    Green, E.D.2    Cremer, T.3
  • 23
    • 0023949872 scopus 로고
    • In-situ hybridisation as a tool to study numerical chromosome aberrations in solid bladder tumours
    • Hopman AHN, Raemakers FCS, Raap AK, et al. In-situ hybridisation as a tool to study numerical chromosome aberrations in solid bladder tumours. Histochemistry 1988;89:307-16.
    • (1988) Histochemistry , vol.89 , pp. 307-316
    • Hopman, A.H.N.1    Raemakers, F.C.S.2    Raap, A.K.3
  • 24
    • 0028231144 scopus 로고
    • The relationship between chromosomal abnormalities in the human oocyte and fertilisation in vitro
    • Almeida PA, Bolton VN. The relationship between chromosomal abnormalities in the human oocyte and fertilisation in vitro. Hum Reprod 1994;9:343-6.
    • (1994) Hum Reprod , vol.9 , pp. 343-346
    • Almeida, P.A.1    Bolton, V.N.2
  • 25
    • 0027278113 scopus 로고
    • Assessment of polyploidy in human morulae and blastocysts using co-culture and fluorescent in-situ hybridisation
    • Benkhalifia M, Janny L, Vye P, Malet P, Boucher D, Menezo Y. Assessment of polyploidy in human morulae and blastocysts using co-culture and fluorescent in-situ hybridisation. Hum Reprod 1993;8:895-902.
    • (1993) Hum Reprod , vol.8 , pp. 895-902
    • Benkhalifia, M.1    Janny, L.2    Vye, P.3    Malet, P.4    Boucher, D.5    Menezo, Y.6
  • 26
    • 0027226089 scopus 로고
    • Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in-situ hybridisation
    • Delhanty JDA, Griffin DK, Handyside AH, et al. Detection of aneuploidy and chromosomal mosaicism in human embryos during preimplantation sex determination by fluorescent in-situ hybridisation, Hum Mol Genet 1993;2: 1183-5.
    • (1993) Hum Mol Genet , vol.2 , pp. 1183-1185
    • Delhanty, J.D.A.1    Griffin, D.K.2    Handyside, A.H.3
  • 28
    • 0030997783 scopus 로고    scopus 로고
    • Triple colour fluorescent in-situ hybridisation for chromosomes X, Y and 1 on spare human embryos
    • Laverge H, De Sutter P, Verschraegen MR, De Paepe A, Dhont M. Triple colour fluorescent in-situ hybridisation for chromosomes X, Y and 1 on spare human embryos. Hum Reprod 1997;12:809-14.
    • (1997) Hum Reprod , vol.12 , pp. 809-814
    • Laverge, H.1    De Sutter, P.2    Verschraegen, M.R.3    De Paepe, A.4    Dhont, M.5
  • 29
    • 0028821394 scopus 로고
    • Restricted distribution of tetraploid cells in mouse tetraploid<->diploid chimaeras
    • James RM, Klerkx AHEM, Keighren M, Flockhart JH, West JD. Restricted distribution of tetraploid cells in mouse tetraploid<->diploid chimaeras. Dev Biol 1995;167:213- 26.
    • (1995) Dev Biol , vol.167 , pp. 213-226
    • James, R.M.1    Klerkx, A.H.E.M.2    Keighren, M.3    Flockhart, J.H.4    West, J.D.5
  • 30
    • 0028854976 scopus 로고
    • Molecular studies of chromosomal mosaicism: Relative frequency of chromosomal gain or loss and possible role of cell selection
    • Robinson WP, Binkert F, Bernasconi F, Lorda-Sanchez I, Werder EA, Schinzel AA. Molecular studies of chromosomal mosaicism: relative frequency of chromosomal gain or loss and possible role of cell selection. Am J Hum Genet 1995;56:444-51.
    • (1995) Am J Hum Genet , vol.56 , pp. 444-451
    • Robinson, W.P.1    Binkert, F.2    Bernasconi, F.3    Lorda-Sanchez, I.4    Werder, E.A.5    Schinzel, A.A.6
  • 31
    • 0030773488 scopus 로고    scopus 로고
    • Meiotic segregation, recombination and gamete aneuploidy assesed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three and four-probe multicolor FISH in sperm
    • Van Hummelen P, Manchester D, Lowe X, Wyrobek J. Meiotic segregation, recombination and gamete aneuploidy assesed in a t(1;10)(p22.1;q22.3) reciprocal translocation carrier by three and four-probe multicolor FISH in sperm. Am J Hum Genet 1997;61:651-9.
    • (1997) Am J Hum Genet , vol.61 , pp. 651-659
    • Van Hummelen, P.1    Manchester, D.2    Lowe, X.3    Wyrobek, J.4
  • 32
    • 0018953638 scopus 로고
    • Reciprocal translocations: A way to predict the mode of imbalanced segregation by pachytene diagram drawing. A study of 151 human translocations
    • Jalbert P, Sele B, Jalbert H. Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene diagram drawing. A study of 151 human translocations. Hum Genet 1980;55:209-22.
    • (1980) Hum Genet , vol.55 , pp. 209-222
    • Jalbert, P.1    Sele, B.2    Jalbert, H.3


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