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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White
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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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Clinical summary/Case history
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ISCN
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46,XX,der(7)t(7;9)(q36;q34)mat.ish der(7)t(7;9)(D7Z1+, D7S427-,ABL+).arr 7q36.3(155560741-158812469)x1,9q34.11q34.3(132244926-140211203)x3,16p13.11(14846828-16285151)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 7: DERIVATIVE CHROMOSOME Aneuploid Segment (-)7q36>7qter |
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Chromosome 9: DERIVATIVE CHROMOSOME Aneuploid Segment (+)9q34>9qter |
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Chromosome 9: DERIVATIVE CHROMOSOME Trisomic Segment 9q34>9qter |
| Remarks |
Hypotelorism, downward slant to palpebral fissures, large nose with bulbous tip, microdolichocephaly, & large ears; low birth weight; growth & developmental delay; moderate to severe mental retardation; abnormal toes |
| 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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| Krauss CM, Liptak KJ, Aggarwal A, Robinson D, Inheritance and phenotypic expression of a t(7;9)(q36;q34)mat. Am J Med Genet34:514-9 1989 |
| PubMed ID: 2624261 |
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