Description:
DUPLICATED CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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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,XY,dup(18)(q12.2q21).ish dup(18)(q12.2q21)(wcp18+).arr 18q12.2q21.32(34757108-56178804)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>18q21 |
| Remarks |
Developed a severe seizure disorder at age 5 months which persists; left cryptorchidism; biotin deficiency; defect in the enzyme dihydropteridine reductase, resulting in higher-than normal levels of biopterin; profound mental retardation; develpomental level at age 9 years is less than 6 months of age; failure to thrive; growth retardation; down-slanting palpebral fissures; epicanthal folds; an alternating esotropia; short nose; open-mouth habitus; high palate; hyperextensible joints; hypoplastic nails; severely hypotonic with decreased reflexes; ventricular septal defect; prominent calcaneus/club foot |
| 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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| 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 in green, FITC |
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FISH Whole chromosome 18 painting probe in green, FITC |
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karyotype Whole chromosome 18 painting probe in green, FITC |
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karyotype Whole chromosome 18 painting probe in green, FITC |
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