Description:
TURNER SYNDROME
ISO X 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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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,i(X)(qter>q10::q10>qter)[30]/45,X[20]
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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 Chromosome Analysis |
| |
| Cytogenetics |
Chromosome X: ANEUPLOID Aneuploid Segment (+)Xq10>Xqter |
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Chromosome X: ANEUPLOID Aneuploid Segment (-)Xpter>Xp10 |
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Chromosome X: ANEUPLOID Trisomic Segment Xq10>Xqter |
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Chromosome X: ISOCHROMOSOME Aneuploid Segment (+)Xq10>Xqter |
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Chromosome X: ISOCHROMOSOME Aneuploid Segment (-)Xpter>Xp10 |
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Chromosome X: ISOCHROMOSOME Trisomic Segment Xq10>Xqter |
| Remarks |
Turner Syndrome; 40%/60% |
| Wolff DJ, Miller AP, Van Dyke DL, Schwartz S, Willard HF, Molecular definition of breakpoints associated with human Xq isochromosomes: implications for mechanisms of formation. Am J Hum Genet58(1):154-60 1996 |
| PubMed ID: 8554051 |
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