Description:
ANEUPLOID CHROMOSOME NUMBER - NON-TRISOMIC
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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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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Ethnicity
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LATIN AMERICAN
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Family Member
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1
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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,+i(18)(p10).arr[hg19] 18p11.32p11.1(11542-15401751)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 Chromosome Analysis |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
| |
| Cytogenetics |
Chromosome 18: ANEUPLOID Aneuploid Segment (+)18pter>18p10 |
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Chromosome 18: ANEUPLOID Trisomic Segment 18pter>18cen |
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Chromosome 18: ISOCHROMOSOME Aneuploid Segment (+)18pter>18p10 |
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Chromosome 18: ISOCHROMOSOME Trisomic Segment 18pter>18cen |
| Remarks |
Microcephaly; developmental delay; epicanthal folds; broad philtrum; clinodactyly; absent depressor angulus oris muscle; hemiparesis; centromere of isochromosome confirmed by probe (D18Z1) analysis; see GM06871 Fibroblast |
| 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 2021 |
| 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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