Description:
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
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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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Clinical summary/Case history
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ISCN
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48,XXXX.arr(X)x4
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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 X: ANEUPLOID Aneuploid Segment (+)Xpter>Xqter |
| Remarks |
Aplastic anemia; easy bruisability |
| 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 |
| |
| Hostetter G, Kim SY, Savage S, Gooden GC, Barrett M, Zhang J, Alla L, Watanabe A, Einspahr J, Prasad A, Nickoloff BJ, Carpten J, Trent J, Alberts D, Bittner M, Random DNA fragmentation allows detection of single-copy, single-exon alterations of copy number by oligonucleotide array CGH in clinical FFPE samples Nucleic acids research38:e9 2009 |
| PubMed ID: 19875416 |
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| Omran H, Haffner K, Burth S, Fernandez C, Fargier B, Villaquiran A, Nothwang HG, Schnittger S, Lehrach H, Woo D, Brandis M, Sudbrak R, Hildebrandt F, Human adolescent nephronophthisis: gene locus synteny with polycystic kidney disease in pcy mice. J Am Soc Nephrol12(1):107-13 2001 |
| PubMed ID: 11134256 |
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