Description:
INVERTED CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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JEWISH
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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,Y,inv(X)(pter>p11.2::q21.3> p11.2::q21.3>qter)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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| 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 |
| |
| Cytogenetics |
Chromosome X: INVERSION Breakpoint Xp11 inv(X)Xp11 |
|
Chromosome X: INVERSION Breakpoint Xq21 inv(X)Xq21 |
| Remarks |
Clinically normal; mother has the same balanced inversion |
| Higgins AW, Schueler MG, Willard HF, Chromosome engineering: generation of mono- and dicentric isochromosomes in a somatic cell hybrid system. Chromosoma108:256-65 1999 |
| PubMed ID: 10460414 |
| |
| Bailey SM, Meyne J, Cornforth MN, McConnell TS, Goodwin EH, A new method for detecting pericentric inversions using COD-FISH. Cytogenet Cell Genet75:248-53 1996 |
| PubMed ID: 9067435 |
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