NA02668
DNA from Fibroblast
Description:
TURNER SYNDROME
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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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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Sample Source
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DNA from Fibroblast
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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,del(Y)(pter>q11.2:)[77]/45,X[33]
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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 |
4 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome Y: DELETION Aneuploid Segment (-)Yq11>Yqter |
| Remarks |
Male pseudohermaphrodite; several of Turner syndrome stigmata; mixed gonadal dysgenesis; 33% of cells are 45,X |
| Tyler-Smith C, Oakey RJ, Larin Z, Fisher RB, Crocker M, Affara NA, Ferguson-Smith MA, Muenke M, Zuffardi O, Jobling MA, Localization of DNA sequences required for human centromere function through an analysis of rearranged Y chromosomes. Nat Genet5:368-75 1993 |
| PubMed ID: 8298645 |
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