Description:
DERIVATIVE CHROMOSOME
TRANSLOCATED CHROMOSOME
COPY NUMBER VARIATION (CNV) REFERENCE PANEL 02
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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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Black/African American
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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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46,XY,der(2)t(2;11)(p25.3;q14.1).ish der(2)t(2;11)(p25.3;q14.1)(wcp11+).arr 2p25.3(2771-318895)x1,11q14.1q25(79242994-134449982)x3
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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 |
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| Cytogenetics |
Chromosome 11: DERIVATIVE CHROMOSOME Aneuploid Segment (+)11q13>11qter |
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Chromosome 2: DERIVATIVE CHROMOSOME Aneuploid Segment (-)2pter>2p25 |
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Chromosome 2: DERIVATIVE CHROMOSOME Aneuploid Segment (-)2pter>2p25 |
| Remarks |
Developmental delays; severe microcephaly; ventricular septal defect; pre-auricular fistula a.s.; lowset thumbs |
| 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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