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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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,X,t(X;10)(Xqter>Xp22.33::10q11.2>10qter;10pter>10q11.2::Xp22.33>Xpter),der(17)(17pter>17q25::11q13>11qter)[37]/46,X,t(X;10)(Xqter>Xp22.33::10q11.2>10qter;10pter>10q11.2::Xp22.33>Xpter)[13]
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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 |
15 |
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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 |
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| Cytogenetics |
Chromosome 10: TRANSLOCATION Breakpoint 10q11 t(X;10)10q11 |
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Chromosome X: TRANSLOCATION Breakpoint Xp22 t(X;10)Xp22 |
| Remarks |
Mild to moderate mental retardation; emotionally immature; irregular menses; obesity; transient hypertension; possible seizure disorder; short stature; low hairline; dark thick eyebrows; 26%/74% |
| Mathew CG, Wakeling W, Jones E, Easton D, Fisher R, Strong C, Smith B, Chin K, Little P, Nakamura Y, et al, Regional localization of polymorphic markers on chromosome 10 by physical and genetic mapping. Ann Hum Genet54 ( Pt 2):121-9 1990 |
| PubMed ID: 1974407 |
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| Rocchi M, Covone A, Romeo G, Faraonio R, Colantuoni V, Regional mapping of RBP4 to 10q23----q24 and RBP1 to 3q21----q22 in man. Somat Cell Mol Genet15:185-90 1989 |
| PubMed ID: 2928844 |
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| Disteche CM, Swisshelm K, Forbes S, Pagon RA, X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Hum Genet66:71-6 1984 |
| PubMed ID: 6698557 |
| Passage Frozen |
15 |
| Split Ratio |
1:2 |
| 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 Heat Inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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