Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 9
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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 |
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
|
Epstein-Barr Virus
|
Sample Source
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DNA from LCL
|
Race
|
Black/African American
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Family Member
|
1
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
|
47,XY,+9,del(9)(q11)[20]
|
Species
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Homo sapiens
|
Common Name
|
Human
|
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 |
|
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 |
|
CNVPANEL |
For more information click here:CNVPANEL01 |
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CNVPANEL |
For more information click here:CNVPANEL01 |
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Cytogenetics |
Chromosome 9: ANEUPLOID Aneuploid Segment (+)9pter>9q11 |
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Chromosome 9: ANEUPLOID Aneuploid Segment (+)9pter>9q11 |
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Chromosome 9: ANEUPLOID Trisomic Segment 9pter>9q11 |
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Chromosome 9: DELETION Aneuploid Segment (+)9pter>9q11 |
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Chromosome 9: DELETION Trisomic Segment 9pter>9q11 |
Remarks |
Multiple malformations and mental retardation; see GM03226 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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