Description:
TRANSLOCATED CHROMOSOME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
|
Sample Source
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DNA from LCL
|
Race
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White
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Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,t(5;7)(5pter>5q35::7q22>7qter; 7pter>7q22::5q35>5qter)mat
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 7 |
Park et al (Proc Natl Acad Sci USA 85:2667-2671,1988) reported that in situ hybridization using probe pmet1 (7q31-32) showed hybridization to both the normal chromosome #7 and the t(5;7) chromosome. |
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Cytogenetics |
Chromosome 5: TRANSLOCATION Breakpoint 5q35 t(5;7)5q35 |
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Chromosome 7: TRANSLOCATION Breakpoint 7q22 t(5;7)7q22 |
Remarks |
Balanced carrier; in situ hybridization using probe pmet 1 (7q31-32) showed hybridization to both the normal chromosome #7 & the t(5;7) chromosome |
Liu P, Siciliano J, Seong D, Craig J, Zhao Y, de Jong PJ, Siciliano MJ, Dual Alu polymerase chain reaction primers and conditions for isolation of human chromosome painting probes from hybrid cells. Cancer Genet Cytogenet65:93-9 1993 |
PubMed ID: 8453610 |
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Testa JR, Park M, Blair DG, Kalbakji A, Arden K, Vande Woude GF, Analysis by pulsed field gel electrophoresis reveals complex rearrangements in two MET alleles in a chemically-treated human cell line, MNNG-HOS Oncogene5:1565-71 1990 |
PubMed ID: 2250912 |
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Park M, Testa JR, Blair DG, Parsa NZ, Vande Woude GF, Two rearranged MET alleles in MNNG-HOS cells reveal the orientation of MET on chromosome 7 to other markers tightly linked to the cystic fibrosis locus. Proc Natl Acad Sci U S A85:2667-71 1988 |
PubMed ID: 3282234 |
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Kistenmacher, The role of cytogenetics in evaluating multiple congential anomalies. J Germantown Hosp9:25 (1968):2667-71 1968 |
PubMed ID: 3282234 |
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