Description:
ISODICENTRIC CHROMOSOME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| 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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Clinical summary/Case history
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ISCN
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47,XX,+idic(15)(pter>q13::q13>pter)
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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 |
| |
| Cytogenetics |
Chromosome 15: DICENTRIC CHROMOSOME Aneuploid Segment (+)15pter>15q13 |
| Remarks |
Moderate mental retardation; autism; communication disorder; episodic irritability; hypotonia which resolved at age 2; no feeding problems; mild facial dysmorphism including low set ears and bilateral epicanthal folds |
| Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL, Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements American journal of medical genetics Part A139:106-13 2005 |
| PubMed ID: 16284940 |
| |
| Leana-Cox J, Jenkins L, Palmer CG, Plattner R, Sheppard L, Flejter WL, Zackowski J, Tsien F, Schwartz S, Molecular cytogenetic analysis of inv dup(15) chromosomes, using probes specific for the Prader-Willi/Angelman syndrome region: clinical implications. Am J Hum Genet54:748-56 1994 |
| PubMed ID: 8178816 |
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| Latt, Mapping, characterization, and diagnostic utilization of 10 DNA segments from the proximal long arm of human chromosome 15. Cytogenet Cell Genet46:644 (1987):748-56 1987 |
| PubMed ID: 8178816 |
| |
| Donlon TA, Lalande M, Wyman A, Bruns G, Latt SA, Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome [published erratum appears in Proc Natl Acad Sci U S A 1986 Sep;83(18):6964] Proc Natl Acad Sci U S A83:4408-12 1986 |
| PubMed ID: 3012567 |
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