Description:
TRANSLOCATED CHROMOSOME
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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 |
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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
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Sample Source
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DNA from LCL
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,inv(5)(pter>p13::q13>p13:: q13>qter),t(17;22)(17qter>17p13:: 22q11>22qter;22pter>22q11::17p13>17pter)
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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 Chromosome Analysis |
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| Cytogenetics |
Chromosome 17: TRANSLOCATION Breakpoint 17p13 t(17;22)17p13 |
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Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(17;22)22q11 |
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Chromosome 5: INVERSION Breakpoint 5p13 inv(5)5p13 |
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Chromosome 5: INVERSION Breakpoint 5q13 inv(5)5q13 |
| Remarks |
No hematological disorder; habitual aborter; normal phenotype; see GM03196 Fibroblast |
| Spiteri E, Babcock M, Kashork CD, Wakui K, Gogineni S, Lewis DA, Williams KM, Minoshima S, Sasaki T, Shimizu N, Potocki L, Pulijaal V, Shanske A, Shaffer LG, Morrow BE, Frequent translocations occur between low copy repeats on chromosome 22q11.2 (LCR22s) and telomeric bands of partner chromosomes. Hum Mol Genet12(15):1823-37 2003 |
| PubMed ID: 12874103 |
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| Kanda N, Fukushige S, Murotsu T, Yoshida MC, Tsuchiya M, Asano S, Kaziro Y, Nagata S, Human gene coding for granulocyte-colony stimulating factor is assigned to the q21-q22 region of chromosome 17. Somat Cell Mol Genet13:679-84 1987 |
| PubMed ID: 3499671 |
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| Fukushige S, Matsubara K, Yoshida M, Sasaki M, Suzuki T, Semba K, Toyoshima K, Yamamoto T, Localization of a novel v-erbB-related gene, c-erbB-2, on human chromosome 17 and its amplification in a gastric cancer cell line. Mol Cell Biol6:955-8 1986 |
| PubMed ID: 2430175 |
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| Fukushige S, Murotsu T, Matsubara K, Chromosomal assignment of human genes for gastrin, thyrotropin (TSH)- beta subunit and C-erbB-2 by chromosome sorting combined with velocity sedimentation and Southern hybridization. Biochem Biophys Res Commun134:477-83 1986 |
| PubMed ID: 3511905 |
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| McBride OW, Merry D, Givol D, The gene for human p53 cellular tumor antigen is located on chromosome 17 short arm (17p13). Proc Natl Acad Sci U S A83:130-4 1986 |
| PubMed ID: 3001719 |
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| Krumlauf R, Jeanpierre M, Young BD, Construction and characterization of genomic libraries from specific human chromosomes. Proc Natl Acad Sci U S A79:2971-5 1982 |
| PubMed ID: 6953442 |
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