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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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,XX,der(17)t(16;17)(17qter>17p13.3::16p13.13>16pter)mat.ish der(17)MYH-,D16S3400+,D17S2199-,D17S2200+)
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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 16: DERIVATIVE CHROMOSOME Aneuploid Segment (+)16pter>16p13 |
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Chromosome 16: DERIVATIVE CHROMOSOME Aneuploid Segment (+)16pter>16p13 |
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Chromosome 16: DERIVATIVE CHROMOSOME Trisomic Segment 16pter>16p13 |
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Chromosome 17: DERIVATIVE CHROMOSOME Aneuploid Segment (-)17pter>17p13 |
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Chromosome 17: DERIVATIVE CHROMOSOME Aneuploid Segment (-)17pter>17p13 |
| Remarks |
Multiple congenital anomalies including microcephaly, narrow palpebral fissures; ear anomalies, micrognathia, short neck with redundant skin, clinodactyly, cardiac defect, sacral and anal anomalies, renal anomalies, and decreased tone |
| 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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| Dauwerse JG, Wessels JW, Giles RH, Wiegant J, van der Reijden BA, Fugazza G, Jumelet EA, Smit E, Baas F, Raap AK, et al, Cloning the breakpoint cluster region of the inv(16) in acute nonlymphocytic leukemia M4 Eo. Hum Mol Genet2:1527-34 1993 |
| PubMed ID: 8268905 |
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