Description:
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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Other
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Ethnicity
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GUYANAN/ENGLISH
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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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46,XY,der(4)t(3;4)(q25;q35)pat,9qh+.arr 3q25.32 q29(158989231-199380402)x3,4q35.2(188748796-191254119)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 |
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| Cytogenetics |
Chromosome 3: DERIVATIVE CHROMOSOME Aneuploid Segment (+)3q25>3qter |
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Chromosome 3: DERIVATIVE CHROMOSOME Trisomic Segment 3q25>3qter |
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Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (-)4q35>4qter |
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Chromosome 4: DERIVATIVE CHROMOSOME Aneuploid Segment (+)3q25->3qter |
| Remarks |
Partial trisomy 3q; hirsute; systolic heart murmur; deep-set, upslanting eyes; prominent nose with a broad tip & anteverted nares; long, flat philtrum; prominent upper lip; mild micrognathia; bilateral, single palmar creases |
| 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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