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
|
mother
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XX,t(11;22)(11pter>11q23::22q11.2> 22qter;22pter>22q11.2::11q23>11qter)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 11: TRANSLOCATION Breakpoint 11q23 t(11;22)11q23 |
|
Chromosome 22: TRANSLOCATION Breakpoint 22q11 |
|
Chromosome 22: TRANSLOCATION Breakpoint 22q11 t(11;22)22q11 |
| Remarks |
Clinically normal; balanced carrier |
| Edelmann L, Spiteri E, Koren K, Pulijaal V, Bialer MG, Shanske A, Goldberg R, Morrow BE, AT-Rich Palindromes Mediate the Constitutional t(11;22) Translocation. Am J Hum Genet68(1):1-13 2001 |
| PubMed ID: 11095996 |
| |
| Edelmann L, Spiteri E, McCain N, Goldberg R, Pandita RK, Duong S, Fox J, Blumenthal D, Lalani SR, Shaffer LG, Morrow BE, A common breakpoint on 11q23 in carriers of the constitutional t(11;22) translocation. Am J Hum Genet65(6):1608-16 1999 |
| PubMed ID: 10577914 |
| |
| Funke B, Edelmann L, McCain N, Pandita RK, Ferreira J, Merscher S, Zohouri M,
Cannizzaro L, Shanske A, Morrow BE, Der(22) syndrome and velo-cardio-facial syndrome/DiGeorge syndrome share a
1.5-Mb region of overlap on chromosome 22q11. Am J Hum Genet64(3):747-58 1999 |
| PubMed ID: 10053009 |
| |
| Tokino T, Takahashi E, Mori M, Tanigami A, Glaser T, Park JW, Jones C, Hori T, Nakamura Y, Isolation and mapping of 62 new RFLP markers on human chromosome 11. Am J Hum Genet48:258-68 1991 |
| PubMed ID: 1671318 |
|
|