Description:
WILMS TUMOR 1; WT1
INVERTED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
Heritable Diseases
dbGaP |
| Class |
Heritable Cancer Syndromes and other Cancers |
| 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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2
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Relation to Proband
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sibling
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XY,rec(11)(pter> q22::p14>p11.2::q22>qter)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 Chromosome Analysis |
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| Cytogenetics |
Chromosome 11: RECOMBINANT Aneuploid Segment (-)11p14>11p11 |
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Chromosome 11: RECOMBINANT Trisomic Segment 11p14>11p11 |
| Remarks |
Macular dysfunction, cleft lip & palate, & developmental delay; has triplication of 11p11.2>p14; 157% of normal RBC catalase activity; 46,XY,rec(11)(pter>q22:: p14>p11.2::q22>qter)mat; a sib had aniridia |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Reeve AE, Eccles MR, Wilkins RJ, Bell GI, Millow LJ, Expression of insulin-like growth factor-II transcripts in Wilms' tumour. Nature317:258-60 1985 |
| PubMed ID: 2995817 |
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| de Martinville B, Francke U, The c-Ha-ras1, insulin and beta-globin loci map outside the deletion associated with aniridia-Wilms' tumour. Nature305:641-3 1983 |
| PubMed ID: 6312329 |
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| Ferrell RE, Riccardi VM, Catalase levels in patients with aniridia and/or Wilms' tumor: utility and limitations. Cytogenet Cell Genet31:120-3 1981 |
| PubMed ID: 6273073 |
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| Strobel RJ, Riccardi VM, Ledbetter DH, Hittner HM, Duplication 11p11.3 leads to 14.1 to meiotic crossing--over. Am J Med Genet7:15-20 1980 |
| PubMed ID: 7211949 |
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