Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Race
|
White
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
47,XY,+der(22)(22pter>22q11:: 11q23>11qter)mat
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
8 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 11: DERIVATIVE CHROMOSOME Aneuploid Segment (+)11q23>11qter |
|
Chromosome 11: DERIVATIVE CHROMOSOME Trisomic Segment 11q23>11qter |
|
Chromosome 22: DERIVATIVE CHROMOSOME Aneuploid Segment (+)22pter>22q11 |
|
Chromosome 22: DERIVATIVE CHROMOSOME Trisomic Segment 22pter>22q11 |
Remarks |
Multiple congenital anomalies |
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 |
|
Rovigatti U, Watson DK, Yunis JJ, Amplification and rearrangement of Hu-ets-1 in leukemia and lymphoma with involvement of 11q23. Science232:398-400 1986 |
PubMed ID: 3457468 |
|
Schuchman EH, Astrin KH, Aula P, Desnick RJ, Regional assignment of the structural gene for human alpha-L- iduronidase. Proc Natl Acad Sci U S A81:1169-73 1984 |
PubMed ID: 6422468 |
|
Nove J, Nichols WW, Weichselbaum RR, Little JB, Abnormalities of human chromosome 13 and in vitro radiosensitivity; a study of 19 fibroblast strains. Mutat Res84:157-67 1981 |
PubMed ID: 7329430 |
|
Weichselbaum RR, Nove J, Little JB, X-ray sensitivity of fifty-three human diploid fibroblast cell strains from patients with characterized genetic disorders. Cancer Res40:920-5 1980 |
PubMed ID: 7471105 |
|
Zackai EH, Emanuel BS, Site-specific reciprocal translocation, t(11;22) (q23;q11), in several unrelated families with 3:1 meiotic disjunction. Am J Med Genet7:507-21 1980 |
PubMed ID: 7211960 |
Passage Frozen |
8 |
Split Ratio |
1:4 |
Temperature |
37 C |
Percent CO2 |
5% |
Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
Serum |
15% fetal bovine serum Not inactivated |
Substrate |
None specified |
Subcultivation Method |
trypsin-EDTA |
Supplement |
- |
|
|