Description:
PSEUDODICENTRIC CHROMOSOME
DICENTRIC CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
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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Hispanic/Latino
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|
Family History
|
N
|
|
Relation to Proband
|
proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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|
ISCN
|
45,XX,dic(14;18)(p12;p11.2).ish dic(14;18)(D14Z1+,D18Z1+,D18S552-).arr 18p11.32p11.21(1542-15391751)x1
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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 LINE assay |
| |
| Cytogenetics |
Chromosome 14: DERIVATIVE CHROMOSOME Breakpoint (14p12;18p11.2) |
| Remarks |
Mental retardation; colobomas on upper eyelids; bilateral ptosis; blepharospasms of eyelids; left facial paresis; paralysis of upward gaze |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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