Description:
TRANSLOCATED CHROMOSOME
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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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Family Member
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2
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Relation to Proband
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sister
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Confirmation
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Clinical summary/Case history
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ISCN
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46,XX,der(8)t(5;8)(p14;p23)mat.arr 5p15.33p14.3(68519-21849611)x3,8p23.3p23.2(151221-3080601)x1
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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 5: DERIVATIVE CHROMOSOME Aneuploid Segment (+)5pter>5p14 |
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Chromosome 5: DERIVATIVE CHROMOSOME Aneuploid Segment (+)5pter>5p14 |
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Chromosome 5: DERIVATIVE CHROMOSOME Trisomic Segment 5pter>5p14 |
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Chromosome 8: DERIVATIVE CHROMOSOME Aneuploid Segment (-)8pter>8p23 |
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Chromosome 8: DERIVATIVE CHROMOSOME Aneuploid Segment (-)8pter>8p23 |
| Remarks |
Adult; mental retardation; seizures |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2022 |
| PubMed ID: 35039224 |
| |
| 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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