Description:
RETINOBLASTOMA, SPORADIC
CHROMOSOME INSERTION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Ophthalmologic Disorders |
| 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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sibling
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,der(12)ins(12;13)(p11.2;q13q31)mat.ish der(12)(wcp13+).arr 7p15.3(22612295-23040185)x313q13.3q31.1(38481624-83904612)x3
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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 |
| |
| Cytogenetics |
Chromosome 13: INSERTION Aneuploid Segment (+)13q12>13q22 |
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Chromosome 13: INSERTION Trisomic Segment 13q12>13q22 |
| Remarks |
Mental retard; no Retinoblastoma; 46,XX, rec(12),dir ins(12;13)(12pter>12p11.2:: 13q12.3>13q22::12p11.2>12qter)mat; trisomic for 13q12.3>13q22; norm RBC values for LDH, TPI, & PepB; norm electrophoresis patterns for LDH, PepB, TPI, & ESD |
| 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 |
| |
| Riccardi VM, Hittner HM, Francke U, Pippin S, Holmquist GP, Kretzer FL, Ferrell R, Partial triplication and deletion of 13q: study of a family presenting with bilateral retinoblastomas. Clin Genet15:332-45 1979 |
| PubMed ID: 436330 |
|