Description:
DUPLICATED 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 |
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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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Family History
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N
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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,XX,dup(18)(q12.1q22).ish dup(18)(q12.1q22)(wcp18+).arr 18q12.1q22.3(25158928-25472423-69103053)x3
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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 18: DUPLICATION Aneuploid Segment (+)18q12>18q22 |
| Remarks |
Failure to thrive when young; growth retardation; profound mental retardation; at age 16 years developmental level of age 2-3 months; history of seizures; microcephaly; flat occiput; broad nasal bridge; short nose with upturned tip; broad mouth with open-mouth habitus; high palate; marked hypotonia |
| 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 |
| |
| Mewar R, Kline AD, Harrison W, Rojas K, Greenberg F, Overhauser J, Clinical and molecular evaluation of four patients with partial duplications of the long arm of chromosome 18. Am J Hum Genet53(6):1269-78 1993 |
| PubMed ID: 8250043 |
| View |
FISH Whole chromosome 18 painting probe green, FITC |
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karyotype Whole chromosome 18 painting probe green, FITC |
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karyotype Whole chromosome 18 painting probe green, FITC |
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