Description:
TRANSLOCATED CHROMOSOME
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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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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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46,XY,der(4)(4qter>4p15::3p21.3>3pter)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 |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 3: DERIVATIVE CHROMOSOME Aneuploid Segment (+)3pter>3p21 |
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Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (-)4pter>4p15 |
| Remarks |
"Greek helmet face"; shallow orbits & protruding eyes; congenital heart disease; hypospadias; undescended testes |
| Walzer S, Favara B, Ming PM, Gerald PS, A new translocation syndrome (3/B). N Engl J Med275:290-8 1966 |
| PubMed ID: 4957370 |
| Passage Frozen |
2 |
| 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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