메뉴 건너뛰기




Volumn 90, Issue 6, 2008, Pages 2144-2151

Estimation of chromosomal imbalances in preimplantation embryos from preimplantation genetic diagnosis cycles of reciprocal translocations with or without acrocentric chromosomes

Author keywords

acrocentric chromosome (Acro Ch); fluorescence in situ hybridization (FISH); meiotic segregation; preimplantation genetic diagnosis (PGD); Reciprocal translocation

Indexed keywords

ACROCENTRIC CHROMOSOME; ADULT; ARTICLE; BLASTOMERE; CHROMOSOME 13; CHROMOSOME 14; CHROMOSOME 15; CHROMOSOME 21; CHROMOSOME 22; CHROMOSOME DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC PROCEDURE; FEMALE; FEMALE INFERTILITY; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; PREIMPLANTATION EMBRYO; PRIORITY JOURNAL; RECIPROCAL CHROMOSOME TRANSLOCATION; TRISOMY; UNIVERSITY HOSPITAL;

EID: 56649085226     PISSN: 00150282     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2007.10.035     Document Type: Article
Times cited : (40)

References (34)
  • 1
    • 0027472131 scopus 로고
    • Meiotic analysis by FISH of a human male 46,XY,t(15;20)(q11.2;q11.2) translocation heterozygote: quadrivalent configuration, orientation and first meiotic segregation
    • Goldman A.S., and Hulten M.A. Meiotic analysis by FISH of a human male 46,XY,t(15;20)(q11.2;q11.2) translocation heterozygote: quadrivalent configuration, orientation and first meiotic segregation. Chromosoma 102 (1993) 102-111
    • (1993) Chromosoma , vol.102 , pp. 102-111
    • Goldman, A.S.1    Hulten, M.A.2
  • 2
    • 0027155211 scopus 로고
    • Chromosome complements in 695 sperm from three men heterozygous for reciprocal translocations, and a review of the literature
    • Martin R.H., and Hulten M. Chromosome complements in 695 sperm from three men heterozygous for reciprocal translocations, and a review of the literature. Hereditas 118 (1993) 165-175
    • (1993) Hereditas , vol.118 , pp. 165-175
    • Martin, R.H.1    Hulten, M.2
  • 4
    • 0036490364 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities
    • Munne S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online 4 (2002) 183-196
    • (2002) Reprod Biomed Online , vol.4 , pp. 183-196
    • Munne, S.1
  • 5
    • 4043154186 scopus 로고    scopus 로고
    • Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience
    • Lim C.K., Jun J.H., Min D.M., Lee H.S., Kim J.Y., Koong M.K., et al. Efficacy and clinical outcome of preimplantation genetic diagnosis using FISH for couples of reciprocal and Robertsonian translocations: the Korean experience. Prenat Diagn 24 (2004) 556-561
    • (2004) Prenat Diagn , vol.24 , pp. 556-561
    • Lim, C.K.1    Jun, J.H.2    Min, D.M.3    Lee, H.S.4    Kim, J.Y.5    Koong, M.K.6
  • 6
    • 33750930661 scopus 로고    scopus 로고
    • Three hundred and thirty cycles of preimplantation genetic diagnosis for serious genetic disease: clinical considerations affecting outcome
    • Grace J., El-Toukhy T., Scriven P., Ogilvie C., Pickering S., Lasheood A., et al. Three hundred and thirty cycles of preimplantation genetic diagnosis for serious genetic disease: clinical considerations affecting outcome. BJOG 113 (2006) 1393-1401
    • (2006) BJOG , vol.113 , pp. 1393-1401
    • Grace, J.1    El-Toukhy, T.2    Scriven, P.3    Ogilvie, C.4    Pickering, S.5    Lasheood, A.6
  • 8
    • 0028946651 scopus 로고
    • Segregation analysis of four translocations, t(2;18), t(3;15), t(5;7), and t(10;12), by sperm chromosome studies and a review of the literature
    • Estop A.M., Van Kirk V., and Cieply K. Segregation analysis of four translocations, t(2;18), t(3;15), t(5;7), and t(10;12), by sperm chromosome studies and a review of the literature. Cytogenet Cell Genet 70 (1995) 80-87
    • (1995) Cytogenet Cell Genet , vol.70 , pp. 80-87
    • Estop, A.M.1    Van Kirk, V.2    Cieply, K.3
  • 9
    • 0037497360 scopus 로고    scopus 로고
    • Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations
    • Escudero T., Abdelhadi I., Sandalinas M., and Munne S. Predictive value of sperm fluorescence in situ hybridization analysis on the outcome of preimplantation genetic diagnosis for translocations. Fertil Steril 79 Suppl 3 (2003) 1528-1534
    • (2003) Fertil Steril , vol.79 , Issue.SUPPL. 3 , pp. 1528-1534
    • Escudero, T.1    Abdelhadi, I.2    Sandalinas, M.3    Munne, S.4
  • 10
    • 0030982686 scopus 로고    scopus 로고
    • The meiotic segregation pattern of a reciprocal translocation t(10;12)(q26.1;p13.3) by fluorescence in situ hybridization sperm analysis
    • Estop A.M., Cieply K.M., and Aston C.E. The meiotic segregation pattern of a reciprocal translocation t(10;12)(q26.1;p13.3) by fluorescence in situ hybridization sperm analysis. Eur J Hum Genet 5 (1997) 78-82
    • (1997) Eur J Hum Genet , vol.5 , pp. 78-82
    • Estop, A.M.1    Cieply, K.M.2    Aston, C.E.3
  • 11
    • 0030773488 scopus 로고    scopus 로고
    • Meiotic segregation, recombination, and gamete aneuploidy assessed 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., and Wyrobek A.J. Meiotic segregation, recombination, and gamete aneuploidy assessed 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 61 (1997) 651-659
    • (1997) Am J Hum Genet , vol.61 , pp. 651-659
    • Van Hummelen, P.1    Manchester, D.2    Lowe, X.3    Wyrobek, A.J.4
  • 12
    • 0032994872 scopus 로고    scopus 로고
    • Muticolor fluorescent in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11)
    • Estop A.M., Cieply K.M., Munne S., and Feingold E. Muticolor fluorescent in situ hybridization analysis of the spermatozoa of a male heterozygous for a reciprocal translocation t(11;22)(q23;q11). Hum Genet 104 (1999) 412-417
    • (1999) Hum Genet , vol.104 , pp. 412-417
    • Estop, A.M.1    Cieply, K.M.2    Munne, S.3    Feingold, E.4
  • 14
    • 0031890840 scopus 로고    scopus 로고
    • Origin and mechanisms of non-disjunction in human autosomal trisomies
    • Nicolaidis P., and Petersen M.B. Origin and mechanisms of non-disjunction in human autosomal trisomies. Hum Reprod 13 (1998) 313-319
    • (1998) Hum Reprod , vol.13 , pp. 313-319
    • Nicolaidis, P.1    Petersen, M.B.2
  • 15
    • 0025086138 scopus 로고
    • Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage
    • Eiben B., Bartels I., Bahr-Porsch S., Borgmann S., Gatz G., Gellert G., et al. Cytogenetic analysis of 750 spontaneous abortions with the direct-preparation method of chorionic villi and its implications for studying genetic causes of pregnancy wastage. Am J Hum Genet 47 (1990) 656-663
    • (1990) Am J Hum Genet , vol.47 , pp. 656-663
    • Eiben, B.1    Bartels, I.2    Bahr-Porsch, S.3    Borgmann, S.4    Gatz, G.5    Gellert, G.6
  • 16
    • 0038304527 scopus 로고    scopus 로고
    • Chromosomal abnormalities in a series of 6733 human oocytes in preimplantation diagnosis for aged-related aneuploidies
    • Kuliev A., Cieslak J., Ilkevitch Y., and Verlinsky Y. Chromosomal abnormalities in a series of 6733 human oocytes in preimplantation diagnosis for aged-related aneuploidies. Reprod BioMed Online 6 (2003) 54-59
    • (2003) Reprod BioMed Online , vol.6 , pp. 54-59
    • Kuliev, A.1    Cieslak, J.2    Ilkevitch, Y.3    Verlinsky, Y.4
  • 17
    • 0023949872 scopus 로고    scopus 로고
    • In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors
    • Hopman A.H., Ramaekers F.C., Raap A.K., Beck J.L., Devilee P., van der Ploeg M., et al. In situ hybridization as a tool to study numerical chromosome aberrations in solid bladder tumors. Histochemistry 89 (1998) 307-316
    • (1998) Histochemistry , vol.89 , pp. 307-316
    • Hopman, A.H.1    Ramaekers, F.C.2    Raap, A.K.3    Beck, J.L.4    Devilee, P.5    van der Ploeg, M.6
  • 18
    • 0032425535 scopus 로고    scopus 로고
    • Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis
    • Scriven P.N., Handyside A.H., and Ogilvie C.M. Chromosome translocations: segregation modes and strategies for preimplantation genetic diagnosis. Prenat Diagn 18 (1998) 1437-1449
    • (1998) Prenat Diagn , vol.18 , pp. 1437-1449
    • Scriven, P.N.1    Handyside, A.H.2    Ogilvie, C.M.3
  • 19
    • 33745224350 scopus 로고    scopus 로고
    • The importance of aneuploidy screening in reciprocal translocation carriers
    • Pujol A., Benet J., Staessen C., Van Assche E., Campillo M., Egozcue J., et al. The importance of aneuploidy screening in reciprocal translocation carriers. Reproduction 131 (2006) 1025-1035
    • (2006) Reproduction , vol.131 , pp. 1025-1035
    • Pujol, A.1    Benet, J.2    Staessen, C.3    Van Assche, E.4    Campillo, M.5    Egozcue, J.6
  • 20
    • 0036902713 scopus 로고    scopus 로고
    • Possible interchromosomal effect in embryos generated by gametes from translocation carriers
    • Gianaroli L., Magli M.C., Ferraretti A.P., Munne S., Balicchia B., Escudero T., et al. Possible interchromosomal effect in embryos generated by gametes from translocation carriers. Hum Reprod 17 (2002) 3201-3207
    • (2002) Hum Reprod , vol.17 , pp. 3201-3207
    • Gianaroli, L.1    Magli, M.C.2    Ferraretti, A.P.3    Munne, S.4    Balicchia, B.5    Escudero, T.6
  • 21
    • 0346463093 scopus 로고    scopus 로고
    • Multiple aneuploidies in the oocytes of balanced translocation carriers: a preimplantation genetic diagnosis study using first polar body
    • Pujol A., Durban M., Benet J., Boiso I., Calafell J.M., Egozcue J., et al. Multiple aneuploidies in the oocytes of balanced translocation carriers: a preimplantation genetic diagnosis study using first polar body. Reproduction 126 (2003) 701-711
    • (2003) Reproduction , vol.126 , pp. 701-711
    • Pujol, A.1    Durban, M.2    Benet, J.3    Boiso, I.4    Calafell, J.M.5    Egozcue, J.6
  • 22
    • 33846481340 scopus 로고    scopus 로고
    • ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004
    • Sermon K.D., Michiels A., Harton G., Moutou C., Repping S., Scriven P.N., et al. ESHRE PGD Consortium data collection VI: cycles from January to December 2003 with pregnancy follow-up to October 2004. Hum Reprod 22 (2007) 323-336
    • (2007) Hum Reprod , vol.22 , pp. 323-336
    • Sermon, K.D.1    Michiels, A.2    Harton, G.3    Moutou, C.4    Repping, S.5    Scriven, P.N.6
  • 23
    • 17944365343 scopus 로고    scopus 로고
    • PGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis
    • Durban M., Benet J., Boada M., Fernandez E., Calafell J.M., Lailla J.M., et al. PGD in female carriers of balanced Robertsonian and reciprocal translocations by first polar body analysis. Hum Reprod Update 7 (2001) 591-602
    • (2001) Hum Reprod Update , vol.7 , pp. 591-602
    • Durban, M.1    Benet, J.2    Boada, M.3    Fernandez, E.4    Calafell, J.M.5    Lailla, J.M.6
  • 24
    • 0345687890 scopus 로고    scopus 로고
    • Embryo development characteristics in Robertsonian and reciprocal translocations: a comparison of results with non-translocation cases
    • Findikli N., Kahraman S., Kumtepe Y., Donmez E., Biricik A., Sertyel S., et al. Embryo development characteristics in Robertsonian and reciprocal translocations: a comparison of results with non-translocation cases. Reprod Biomed Online 7 (2003) 563-571
    • (2003) Reprod Biomed Online , vol.7 , pp. 563-571
    • Findikli, N.1    Kahraman, S.2    Kumtepe, Y.3    Donmez, E.4    Biricik, A.5    Sertyel, S.6
  • 27
    • 0041520974 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements
    • Simopoulou M., Harper J.C., Fragouli E., Mantzouratou A., Speyer B.E., Serhal P., et al. Preimplantation genetic diagnosis of chromosome abnormalities: implications from the outcome for couples with chromosomal rearrangements. Prenat Diagn 23 (2003) 652-662
    • (2003) Prenat Diagn , vol.23 , pp. 652-662
    • Simopoulou, M.1    Harper, J.C.2    Fragouli, E.3    Mantzouratou, A.4    Speyer, B.E.5    Serhal, P.6
  • 28
    • 26244433893 scopus 로고    scopus 로고
    • Analysis of chromosome segregation during preimplantation genetic diagnosis in both male and female translocation heterozygotes
    • Munne S. Analysis of chromosome segregation during preimplantation genetic diagnosis in both male and female translocation heterozygotes. Cytogenet Genome Res 111 (2005) 305-309
    • (2005) Cytogenet Genome Res , vol.111 , pp. 305-309
    • Munne, S.1
  • 29
    • 0036922650 scopus 로고    scopus 로고
    • Meiotic outcomes in reciprocal carriers ascertained in 3-day human embryos
    • Ogilvie C., and Scriven P. Meiotic outcomes in reciprocal carriers ascertained in 3-day human embryos. Eur J Hum Genet 10 (2002) 801-806
    • (2002) Eur J Hum Genet , vol.10 , pp. 801-806
    • Ogilvie, C.1    Scriven, P.2
  • 30
    • 14944366531 scopus 로고    scopus 로고
    • Negligible interchromosomal effect in embryos of Robertsonian translocation carriers
    • Munne S., Escudero T., Fischer J., Chen S., Hill J., Stelling J.R., et al. Negligible interchromosomal effect in embryos of Robertsonian translocation carriers. Reprod Biomed Online 10 (2005) 363-369
    • (2005) Reprod Biomed Online , vol.10 , pp. 363-369
    • Munne, S.1    Escudero, T.2    Fischer, J.3    Chen, S.4    Hill, J.5    Stelling, J.R.6
  • 31
    • 0030840912 scopus 로고    scopus 로고
    • Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations
    • Guttenbach M., Engel W., and Schmid M. Analysis of structural and numerical chromosome abnormalities in sperm of normal men and carriers of constitutional chromosome aberrations. Hum Genet 100 (1997) 1-21
    • (1997) Hum Genet , vol.100 , pp. 1-21
    • Guttenbach, M.1    Engel, W.2    Schmid, M.3
  • 32
    • 0032908816 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism
    • Conn C.M., Cozzi J., Harper J.C., Winston R.M., and Delhanty J.D. Preimplantation genetic diagnosis for couples at high risk of Down syndrome pregnancy owing to parental translocation or mosaicism. J Med Genet 36 (1999) 45-50
    • (1999) J Med Genet , vol.36 , pp. 45-50
    • Conn, C.M.1    Cozzi, J.2    Harper, J.C.3    Winston, R.M.4    Delhanty, J.D.5
  • 33
    • 0034021649 scopus 로고    scopus 로고
    • Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations
    • Faraut T., Mermet M.A., Demongeot J., and Cohen O. Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations. Cytogenet Cell Genet 88 (2000) 15-21
    • (2000) Cytogenet Cell Genet , vol.88 , pp. 15-21
    • Faraut, T.1    Mermet, M.A.2    Demongeot, J.3    Cohen, O.4
  • 34
    • 0018575212 scopus 로고
    • Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations
    • Jalbert P., and Sele B. Factors predisposing to adjacent 2 and 3:1 disjunctions: study of 161 human reciprocal translocations. Med Genet 16 (1979) 467-478
    • (1979) Med Genet , vol.16 , pp. 467-478
    • Jalbert, P.1    Sele, B.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.