Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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White
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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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Clinical summary/Case history
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ISCN
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47,XY,+21[41]/46,XY,dic(21;21)(pter> q21::p12>qter)[9]
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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 |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 21: ANEUPLOID Aneuploid Segment (+)21pter>21qter |
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Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21qter |
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Chromosome 21: DICENTRIC CHROMOSOME Aneuploid Segment (+)21pter>21qter |
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Chromosome 21: DICENTRIC CHROMOSOME Trisomic Segment 21pter>21qter |
| Remarks |
82% of cells are 47,XY,+21 at passage 10; small head, high arched palate, flat occiput, upslanting palpebral fissures, bilateral epicanthal folds, hypotonic fingers, and developmental delay |
| Passage Frozen |
7 |
| Split Ratio |
1:3 |
| 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 |
- |
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