Description:
RING 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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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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47,XY,+11,r(17)(::p13->q25::)[2]/46,XY,r(17)(::p13->q25::)[18].arr(1-22)x2,(XY)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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Remarks |
Moderately severe mental retardation; seizures; behavioral disorder; short stature; wide-based, shuffling gait; dysarthric speech; acid alpha-glucosidase WBC phenotype is 1-2 |
| 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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| Chudley AE, Pabello PD, McAlpine PJ, Nickel BE, Shokeir MH, Brief clinical report: ring chromosome 17 in a mentally retarded young man - clinical, cytogenetic, and biochemical investigations. Am J Med Genet12:219-25 1982 |
| PubMed ID: 7048927 |
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