A complex derivative chromosome 8 with an inverted duplication of 8p21.3→p23.3 and a rearranged duplication of 8q24.13→qter characterized by FISH.

被引:0
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作者
Fan, YS
Siu, VM
机构
[1] London Hlth Sci Ctr, Cytogenet Lab, London, ON N6A 5C1, Canada
[2] London Hlth Sci Ctr, Dept Pediat, London, ON N6A 5C1, Canada
[3] Univ Western Ontario, London, ON, Canada
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中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
818
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页码:156 / 156
页数:1
相关论文
共 26 条
  • [1] Molecular cytogenetic characterization of a derivative chromosome 8 with an inverted duplication of 8p21.3→p23.3 and a rearranged duplication of 8q24.13→qter
    Fan, YS
    Siu, VM
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 102 (03): : 266 - 271
  • [2] Duplication of chromosome region 8p23.1 → p23.3:: A benign variant?
    Engelen, JJM
    Moog, U
    Evers, JLH
    Dassen, H
    Albrechts, JCM
    Hamers, AJH
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 91 (01): : 18 - 21
  • [3] Mosaic tetrasomy 8q: Inverted duplication of 8q23.3qter in an analphoid marker
    Reddy, KS
    Sulcova, V
    Schwartz, S
    Noble, JE
    Phillips, J
    Brasel, JA
    Huff, K
    Lin, HJ
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 92 (01): : 69 - 76
  • [4] INVERTED TANDEM DUPLICATION GENERATES A DUPLICATION DEFICIENCY OF CHROMOSOME-8P
    DILL, FJ
    SCHERTZER, M
    SANDERCOCK, J
    TISCHLER, B
    WOOD, S
    [J]. CLINICAL GENETICS, 1987, 32 (02) : 109 - 113
  • [5] Pre and postnatal findings in a patient with a rec(8)(qter >q21.11 p23.3 >qter) due to a paternal inv(8)(p23.3q21.11)
    Habhab, Wisam
    Singer, Sylke
    Riess, Angelika
    Kagan, Karl Oliver
    Liehr, Thomas
    Schaeferhoff, Karin
    Dufke, Andreas
    Mau-Holzmann, Ulrike
    Kehrer, Martin
    [J]. MOLECULAR CYTOGENETICS, 2019, 12
  • [6] Pre- and postnatal findings in a patient with a recombinant chromosome rec(8)(qter→q21.11::p23.3→qter) due to a paternal pericentric inversion inv(8)(p23.3q21.11) and review of the literature
    Habhab, Wisam
    Mau-Holzmann, Ulrike
    Singer, Sylke
    Rie, Angelika
    Kagan, Karl-Oliver
    Gerbig, Ines
    Schaeferhoff, Karin
    Dufke, Andreas
    Kehrer, Martin
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (11) : 2680 - 2684
  • [7] De novo8p21.3→ p23.3 Duplication With t(4;8)(q35;p21.3) Translocation Associated With Mental Retardation, Autism Spectrum Disorder, and Congenital Heart Defects: Case Report With Literature Review
    Gug, Cristina
    Stoicanescu, Dorina
    Mozos, Ioana
    Nussbaum, Laura
    Cevei, Mariana
    Stambouli, Danae
    Pavel, Anca Gabriela
    Doros, Gabriela
    [J]. FRONTIERS IN PEDIATRICS, 2020, 8
  • [8] An analphoid marker chromosome shown to be an inverted duplication 8q23qter with a neocentromere.
    Sulcova, V
    Reddy, KS
    Schwartz, S
    Noble, J
    Lin, H
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1999, 65 (04) : A358 - A358
  • [9] Unusual 8p inverted duplication deletion with telomere capture from 8q
    Buysse, Karen
    Antonacci, Francesca
    Callewaert, Bert
    Loeys, Bart
    Fraenkel, Ulrike
    Siu, Victoria
    Mortier, Geert
    Speleman, Frank
    Menten, Bjoern
    [J]. EUROPEAN JOURNAL OF MEDICAL GENETICS, 2009, 52 (01) : 31 - 36
  • [10] Direct duplication of 8p21.3→p23.1:: A cytogenetic anomaly associated with developmental delay without consistent clinical features
    Fan, YS
    Siu, VM
    Jung, JH
    Farrell, SA
    Côté, GB
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 2001, 103 (03): : 231 - 234