Description:
PSEUDODICENTRIC CHROMOSOME
DICENTRIC CHROMOSOME
|
Repository
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NIGMS Human Genetic Cell Repository
|
| 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
|
|
Tissue Type
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Blood
|
|
Transformant
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Epstein-Barr Virus
|
|
Sample Source
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DNA from LCL
|
|
Race
|
Hispanic/Latino
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
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
|
|
Common Name
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Human
|
|
Remarks
|
|
| 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 |
|