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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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XX,+idic(15)(q13).ish idic(15)(q13)(D15Z1++,D15S11++,SNRPN++,UBE3A++/D15S10++,GABRB3++,PML-)
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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 |
| |
| Cytogenetics |
Chromosome 15: ANEUPLOID Aneuploid Segment (+)15pter->15q13 |
| Remarks |
Developmental delay, small, abnormal EEG, subnormal intelligence, and microcephaly |
| Glatt K, Glatt H, Lalande M, Structure and organization of GABRB3 and GABRA5 [published erratum appears in 1997 Aug 15;44(1):155] Genomics41:63-9 1997 |
| PubMed ID: 9126483 |
| |
| Cheng SD, Spinner NB, Zackai EH, Knoll JH, Cytogenetic and molecular characterization of inverted duplicated chromosomes 15 from 11 patients. Am J Hum Genet55:753-9 1994 |
| PubMed ID: 7942854 |
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| 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 |
| |
| Nicholls RD, Knoll JH, Glatt K, Hersh JH, Brewster TD, Graham JM Jr, Wurster-Hill D, Wharton R, Latt SA, Restriction fragment length polymorphisms within proximal 15q and their use in molecular cytogenetics and the Prader-Willi syndrome. Am J Med Genet33:66-77 1989 |
| PubMed ID: 2568752 |
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