메뉴 건너뛰기




Volumn 53, Issue 3, 2005, Pages 351-354

Prenatal diagnosis and molecular cytogenetic characterization of an unusual complex structural rearrangement in a pregnancy following intracytoplasmic sperm injection (ICSI)

Author keywords

CGH; Complex chromosomal rearrangement; FISH; ICSI; Multicolor banding; Prenatal diagnosis

Indexed keywords

ADULT; AMNIOCENTESIS; CASE REPORT; CHROMOSOME 15; CHROMOSOME 5Q; CHROMOSOME ABERRATION; CHROMOSOME NOR; CHROMOSOME PAINTING; CHROMOSOME REARRANGEMENT; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONFERENCE PAPER; CYTOGENETICS; FEMALE; FETUS; FLUORESCENCE IN SITU HYBRIDIZATION; HUMAN; HUMAN CELL; INTRACYTOPLASMIC SPERM INJECTION; KARYOTYPE; KARYOTYPE 46,XX; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

EID: 14844288095     PISSN: 00221554     EISSN: None     Source Type: Journal    
DOI: 10.1369/jhc.4B6412.2005     Document Type: Conference Paper
Times cited : (7)

References (12)
  • 1
    • 0033053010 scopus 로고    scopus 로고
    • High resolution multicolor-banding: A new technique for refined FISH analysis of human chromosomes
    • Chudoba I, Plesch A, Lorch T, Lemke J, Claussen U, Senger G (1999) High resolution multicolor-banding: a new technique for refined FISH analysis of human chromosomes. Cytogenet Cell Genet 84:156-160
    • (1999) Cytogenet Cell Genet , vol.84 , pp. 156-160
    • Chudoba, I.1    Plesch, A.2    Lorch, T.3    Lemke, J.4    Claussen, U.5    Senger, G.6
  • 3
    • 1542790007 scopus 로고    scopus 로고
    • 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
    • Grasshoff U, Singer S, Liehr T, Starke H, Fode B, Schoning M, Dufke A (2003) 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) Cytogenet Genome Res , vol.103 , pp. 17-23
    • Grasshoff, U.1    Singer, S.2    Liehr, T.3    Starke, H.4    Fode, B.5    Schoning, M.6    Dufke, A.7
  • 5
    • 0042823383 scopus 로고    scopus 로고
    • Ten years follow up of a boy with a complex chromosomal rearrangement: Going from a > 5 to 15-breakpoint CCR
    • Houge G, Liehr T, Schoumans J, Ness GO, Solland K, Starke H, Claussen U, et al. (2003) Ten years follow up of a boy with a complex chromosomal rearrangement: going from a > 5 to 15-breakpoint CCR. Am J Med Genet 118A:235-240
    • (2003) Am J Med Genet , vol.118 A , pp. 235-240
    • Houge, G.1    Liehr, T.2    Schoumans, J.3    Ness, G.O.4    Solland, K.5    Starke, H.6    Claussen, U.7
  • 7
    • 0030906960 scopus 로고    scopus 로고
    • 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
    • Madan K, Nieuwint AW, van Bever Y (1997) 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) Hum Genet , vol.99 , pp. 806-815
    • Madan, K.1    Nieuwint, A.W.2    Van Bever, Y.3
  • 8
    • 10744232485 scopus 로고    scopus 로고
    • Small supernumerary marker chromosomes (SMCs): Genotype-phenotype correlation and classification
    • Starke H, Nietzel A, Weise A, Heller A, Mrasek K, Belitz B, Kelbova C, et al. (2003) Small supernumerary marker chromosomes (SMCs): genotype-phenotype correlation and classification. Hum Genet 114:51-67
    • (2003) Hum Genet , vol.114 , pp. 51-67
    • Starke, H.1    Nietzel, A.2    Weise, A.3    Heller, A.4    Mrasek, K.5    Belitz, B.6    Kelbova, C.7
  • 9
    • 0034875244 scopus 로고    scopus 로고
    • Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics
    • Tönnies H, Stumm M, Wegner RD, Chudoba I, Kaischeuer V, Neitzel H (2001) Comparative genomic hybridization based strategy for the analysis of different chromosome imbalances detected in conventional cytogenetic diagnostics. Cytogenet Cell Genet 93: 188-194
    • (2001) Cytogenet Cell Genet , vol.93 , pp. 188-194
    • Tönnies, H.1    Stumm, M.2    Wegner, R.D.3    Chudoba, I.4    Kaischeuer, V.5    Neitzel, H.6
  • 10
    • 0025941775 scopus 로고
    • De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: Clinical significance and distribution of breakpoints
    • Warburton D (1991) De novo balanced chromosome rearrangements and extra marker chromosomes identified at prenatal diagnosis: clinical significance and distribution of breakpoints. Am J Hum Genet 49:995-1013
    • (1991) Am J Hum Genet , vol.49 , pp. 995-1013
    • Warburton, D.1
  • 11
    • 0034790956 scopus 로고    scopus 로고
    • Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: A new variant without phenotypic effect
    • Willatt L, Green AJ, Trump D (2001) Satellites on the terminal short arm of chromosome 12 (12ps), inherited through several generations in three families: a new variant without phenotypic effect. J Med Genet 38:723-727
    • (2001) J Med Genet , vol.38 , pp. 723-727
    • Willatt, L.1    Green, A.J.2    Trump, D.3
  • 12
    • 0030916936 scopus 로고    scopus 로고
    • A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus
    • Zeschnigk M, Lich C, Buiting K, Doerfler W, Horsthemke B (1997) A single-tube PCR test for the diagnosis of Angelman and Prader-Willi syndrome based on allelic methylation differences at the SNRPN locus. Eur J Hum Genet 5:94-98
    • (1997) Eur J Hum Genet , vol.5 , pp. 94-98
    • Zeschnigk, M.1    Lich, C.2    Buiting, K.3    Doerfler, W.4    Horsthemke, B.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.