Description:
POTOCKI-SHAFFER SYNDROME
Repository
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NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities Heritable Diseases dbGaP |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
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
|
Sample Source
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DNA from LCL
|
Family Member
|
2
|
Relation to Proband
|
mother
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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,XX,ins(13;11)(q14.1;p11.2p12).ish ins(13;11)(q14.1;p11.2p12)(wcp11+).arr(1-22,X)x2
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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 |
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Cytogenetics |
Chromosome 11: INSERTION Breakpoint 11p11.2>11p12 |
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Chromosome 13: INSERTION Breakpoint 13q14.1 |
Remarks |
Clinically normal; mother of GM22622 |
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 |
|
Wakui K, Gregato G, Ballif BC, Glotzbach CD, Bailey KA, Kuo PL, Sue WC, Sheffield LJ, Irons M, Gomez EG, Hecht JT, Potocki L, Shaffer LG, Construction of a natural panel of 11p112 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome European journal of human genetics : EJHG13:528-40 2005 |
PubMed ID: 15852040 |
View |
FISH spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
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FISH spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
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FISH spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
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karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
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karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
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karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
|
karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
|
karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
|
karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
|
karyotype spectrum green detects 11pter>11qter; spectrum orange detects D13S1825 |
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MicroArray Chromosome 13 |
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MicroArray Karyotype View of the copy number segment changes detected by the Affymetrix Genome Wide Human SNP Array 6.0 |
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