Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX,+der(9)t(9;13)(q21.3;q12.1)mat,-13.arr 9p24.3q21.31(36586-80712809)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 13: DERIVATIVE CHROMOSOME Aneuploid Segment (-)13pter>13q12 |
|
Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9pter>9q21 |
|
Chromosome 9: DERIVATIVE CHROMOSOME Trisomic Segment 9pter>9q21 |
| Remarks |
Profoundly retarded; clinical features of trisomy 9p syndrome; see GM01387 Fibroblast |
| 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 |
| |
| Barr FG, Holick J, Nycum L, Biegel JA, Emanuel BS, Localization of the t(2;13) breakpoint of alveolar rhabdomyosarcoma on a physical map of chromosome 2. Genomics13:1150-6 1992 |
| PubMed ID: 1505949 |
| |
| Barr FG, Sellinger B, Emanuel BS, Localization of the rhabdomyosarcoma t(2;13) breakpoint on a physical map of chromosome 13. Genomics11:941-7 1991 |
| PubMed ID: 1783402 |
| |
| Howard-Peebles PN, Yarbrough KM, Stoddard GR, Rary JM, Translocation of 9q/13q resulting in duplication (trisomy 9pter leads to 9q22) and deficiency (monosomy 13pter leads to 13q12). Clin Genet11:46-52 1977 |
| PubMed ID: 830449 |
|
|