Description:
TRANSLOCATED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
DGAP |
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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,X,t(X;8;2)(Xpter>Xq21.2::2q14.2> 2qter;8qter> 8p11.1::Xq21.2>Xqter;2pter>2q14.2::8p11.1>8pter)
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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 2: TRANSLOCATION Breakpoint 2q14 t(X;2;8)2q14 |
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Chromosome 8: TRANSLOCATION Breakpoint 8p11 t(X;2;8)8p11 |
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Chromosome X: TRANSLOCATION Breakpoint Xq21 t(X;2;8)Xq21 |
| Remarks |
Primary amenorrhea; lack of secondary sexual development; no dysmorphic features; normal IQ; streak gonads and hypoplastic uterus; possible del(X)(q21>q22.3); normal X is late replicating with 5% of cells showing label on trans X segment; see GM05011A Lymphoid |
| Juberg, Critical region hypothesis: Phenotypic prediction in a complex X;2;8 translocation. Am J Hum Genet33:108A (1981): 1981 |
| PubMed ID: |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| 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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