Fluorescence in situ hybridization detection of two telomeres on the short arm of a derived chromosome 16 in an infant with thrombocytopenia

被引:4
作者
Gribble, S
Andrews, K
Williams, D
Tillett, A
Bloxham, D
Proffit, J
Hackbarth, M
Grace, C
Green, A
Nacheva, E
机构
[1] Univ Cambridge, Dept Haematol, Cambridge CB2 2XY, England
[2] Addenbrookes Hosp, Dept Paediat, Cambridge CB2 2QQ, England
[3] Addenbrookes Hosp, Dept Haematol, Cambridge CB2 2QQ, England
[4] Digital Sci Ltd, Cambridge, England
[5] Vysis Inc, Downers Grove, IL USA
关键词
D O I
10.1016/S0165-4608(99)00259-9
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
We report a case of severe thrombocytopenia with an abnormal bone marrow karyotype described by G-banding analysis as t(16;21)(p?13;q11). Using fluorescence in situ hybridization (FISH) analysis with whole chromosome paints, the chromosome rearrangement was shown to be more complex, with the additional cryptic involvement of the long arm of chromosome 3. The chromosome rearrangement involved the breakpoints 3q26, 16p13.3, and 21q11; this rearrangement has not been previously described. The size of genomic material translocated from the chromosome 16 homologue was too small to be detected by chromosome paint. A 16p-specific telomeric probe was hybridized to locate the translocated 16p material. The 16p telomeric unique sequence DNA was retained on the der(16) chromosome, indicating a more distal breakpoint. This study demonstrates that telomeric translocations con occur that would be undetected by telomeric-specific FISH probes. (C) 2000 Elsevier Science Inc. All rights reserved.
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页码:99 / 104
页数:6
相关论文
共 10 条
[1]  
DONNISKELLER H, 1987, CELL, V51, P5319
[2]   THE DETECTION OF SUBTELOMERIC CHROMOSOMAL REARRANGEMENTS IN IDIOPATHIC MENTAL-RETARDATION [J].
FLINT, J ;
WILKIE, AOM ;
BUCKLE, VJ ;
WINTER, RM ;
HOLLAND, AJ ;
MCDERMID, HE .
NATURE GENETICS, 1995, 9 (02) :132-140
[3]   The relationship between chromosome structure and function at a human telomeric region [J].
Flint, J ;
Thomas, K ;
Micklem, G ;
Raynham, H ;
Clark, K ;
Doggett, NA ;
King, A ;
Higgs, DR .
NATURE GENETICS, 1997, 15 (03) :252-257
[4]   ACUTE-LEUKEMIA WITH ABNORMAL THROMBOPOIESIS AND INVERSIONS OF CHROMOSOME-3 [J].
JENKINS, RB ;
TEFFERI, A ;
SOLBERG, LA ;
DEWALD, GW .
CANCER GENETICS AND CYTOGENETICS, 1989, 39 (02) :167-179
[5]   GENERATION OF THE AML1-EVI-1 FUSION GENE IN THE T(3 21)(Q26 Q22) CAUSES BLASTIC CRISIS IN CHRONIC MYELOCYTIC-LEUKEMIA [J].
MITANI, K ;
OGAWA, S ;
TANAKA, T ;
MIYOSHI, H ;
KUROKAWA, M ;
MANO, H ;
YAZAKI, Y ;
OHKI, M ;
HIRAI, H .
EMBO JOURNAL, 1994, 13 (03) :504-510
[6]   B-CELL NON-HODGKINS-LYMPHOMA CELL-LINE (KARPAS-1106) WITH COMPLEX TRANSLOCATION INVOLVING 18Q21.3 BUT LACKING BCL2 REARRANGEMENT AND EXPRESSION [J].
NACHEVA, E ;
DYER, MJS ;
METIVIER, C ;
JADAYEL, D ;
STRANKS, G ;
MORILLA, R ;
HEWARD, JM ;
HOLLOWAY, T ;
OCONNOR, S ;
BEVAN, PC ;
LARSEN, CJ ;
KARPAS, A .
BLOOD, 1994, 84 (10) :3422-3428
[7]   CONSISTENT INTERGENIC SPLICING AND PRODUCTION OF MULTIPLE TRANSCRIPTS BETWEEN AML1 AT 21Q22 AND UNRELATED GENES AT 3Q26 IN (321)(Q26Q22) TRANSLOCATIONS [J].
NUCIFORA, G ;
BEGY, CR ;
KOBAYASHI, H ;
ROULSTON, D ;
CLAXTON, D ;
PEDERSENBJERGAARD, J ;
PARGANAS, E ;
IHLE, JN ;
ROWLEY, JD .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1994, 91 (09) :4004-4008
[8]   Characterization of short tandem repeats from thirty-one human telomeres [J].
Rosenberg, M ;
Hui, L ;
Ma, JL ;
Nusbaum, HC ;
Clark, K ;
Robinson, L ;
Dziadzio, L ;
Swain, PM ;
Keith, T ;
Hudson, TJ ;
Biesecker, LG ;
Flint, J .
GENOME RESEARCH, 1997, 7 (09) :917-923
[9]   THE HIGHEST GENE CONCENTRATIONS IN THE HUMAN GENOME ARE IN TELOMERIC BANDS OF METAPHASE CHROMOSOMES [J].
SACCONE, S ;
DESARIO, A ;
DELLAVALLE, G ;
BERNARDI, G .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (11) :4913-4917
[10]   The DNA structures at the ends of eukaryotic chromosomes [J].
Wellinger, RJ ;
Sen, D .
EUROPEAN JOURNAL OF CANCER, 1997, 33 (05) :735-749