Description:
DUPLICATED 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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XY,der(2)(qter>q33::p25>qter)
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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 |
3 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 2: DELETION Trisomic Segment 2q33>2qter |
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Chromosome 2: DUPLICATION Trisomic Segment 2q33>2qter |
| Remarks |
In lymphocytes, 28% of the cells had a r(2)(2p25>2q33) instead of the duplication; mild mental retardation, unusual facies, bilateral single transverse palmar creases, and systolic heart murmur |
| Wyandt HE, Kasprzak R, Lamb A, Willson K, Wilson WG, Kelly TE, Human chromosome 2 rod/ring mosaicism: probable origin by prezygotic breakage and intrachromosomal exchange. Cytogenet Cell Genet33:222-31 1982 |
| PubMed ID: 6957282 |
| Passage Frozen |
3 |
| 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 |
- |
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