Description:
TRISOMY 21
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Race
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Black/African American
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,der(10)(10pter> 10q26::21q21>21qter)mat
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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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| Passage Frozen |
17 |
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| 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 10: DERIVATIVE CHROMOSOME Aneuploid Segment (-)10q26>10qter |
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Chromosome 10: DERIVATIVE CHROMOSOME Trisomic Segment 10q26>10qter |
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Chromosome 21: ANEUPLOID Aneuploid Segment (+)21q21>21qter |
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Chromosome 21: ANEUPLOID Trisomic Segment 21q21>21qter |
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Chromosome 21: DERIVATIVE CHROMOSOME Aneuploid Segment (+)21q21>21qter |
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Chromosome 21: DERIVATIVE CHROMOSOME Trisomic Segment 21q21>21qter |
| Remarks |
Clinical features of Down syndrome |
| Kim SY, Lee SM, Kim SM, Kim BJ, Koo JN, Oh IH, Oh S, Park CW, Jun JK, Lim JH, Ryu HM, Park JS, Novel method of real-time PCR-based screening for common fetal trisomies BMC medical genomics14:195 2020 |
| PubMed ID: 34330281 |
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| Antonarakis SE, Warren AC, McCormick MK, Lewis JG, Hieter PA, Chakravarti A, Molecular mapping of chromosome 21 and the region responsible for Down syndrome. Prog Clin Biol Res311:29-43 1989 |
| PubMed ID: 2528152 |
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| McCormick MK, Schinzel A, Petersen MB, Stetten G, Driscoll DJ, Cantu ES, Tranebjaerg L, Mikkelsen M, Watkins PC, Antonarakis SE, Molecular genetic approach to the characterization of the "Down syndrome region" of chromosome 21. Genomics5:325-31 1989 |
| PubMed ID: 2529205 |
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| Williams JD, Summitt RL, Martens PR, Kimbrell RA, Familial Down syndrome due to t(10;21) translocation: evidence that the Down phenotype is related to trisomy of a specific segment of chromosome 21. Am J Hum Genet27:478-85 1975 |
| PubMed ID: 125542 |
| Passage Frozen |
17 |
| Split Ratio |
1:2 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagles Minimum Essential Medium with Earle's salts:Dulbecco's modified MEM with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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