Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| 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
|
2
|
|
Relation to Proband
|
parent
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,t(11;16)(p11.2;p11.1)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11p11 t(11;16)11p11 |
|
Chromosome 11: TRANSLOCATION Breakpoint 11p11.2 |
|
Chromosome 16: TRANSLOCATION Breakpoint 16p11 t(11;16)16p11 |
|
Chromosome 16: TRANSLOCATION Breakpoint 16p11.1 |
| Remarks |
Mother of a child with an unbalanced translocation; husband is GM06315A Lymphoid |
| Callen DF, Doggett NA, Stallings RL, Chen LZ, Whitmore SA, Lane SA, Nancarrow JK, Apostolou S, Thompson AD, Lapsys NM, et al, High-resolution cytogenetic-based physical map of human chromosome 16. Genomics13:1178-85 1992 |
| PubMed ID: 1505951 |
| |
| Junien C, van Heyningen V, Evans G, Little P, Mannens M, Report of the second chromosome 11 workshop. Genomics12:620-5 1992 |
| PubMed ID: 1348491 |
| |
| Seawright A, Fletcher JM, Fantes JA, Morrison H, Porteous DJ, Li SS, Hastie ND, Van Heyningen V, Analysis of WAGR deletions and related translocations with gene- specific DNA probes, using FACS-selected cell hybrids. Somat Cell Mol Genet14:21-30 1988 |
| PubMed ID: 2829363 |
| |
| Spurr NK, Gough AC, Gosden J, Rout D, Porteous DJ, van Heyningen V, Docherty AJ, Restriction fragment length polymorphism analysis and assignment of the metalloproteinases stromelysin and collagenase to the long arm of chromosome 11. Genomics2:119-27 1988 |
| PubMed ID: 2900807 |
|
|