Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
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Subcollection |
Chromosome Abnormalities |
Quantity |
25 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Peripheral vein
|
Cell Type
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B-Lymphocyte
|
Tissue Type
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Blood
|
Transformant
|
Epstein-Barr Virus
|
Sample Source
|
DNA from LCL
|
Race
|
White
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Clinical summary/Case history
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ISCN
|
46,XX,t(3;21)(3qter>3p24.2::21q21> 21qter;21pter>21q21::3p24.2>3pter)
|
Species
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Homo sapiens
|
Common Name
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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 |
|
Cytogenetics |
Chromosome 21: TRANSLOCATION Breakpoint 21q21 t(3;21)21q21 |
|
Chromosome 3: TRANSLOCATION Breakpoint 3p24 t(3;21)3p24 |
Remarks |
Clinically normal; child with an unbalanced translocation is GM09285 Fibro |
Ye MH, Saito-Ohara F, Ikeuchi T, High-resolution chromosome R-banding in lymphoblastoid cell lines by the combined use of cell synchronization and ethidium bromide treatment. Jpn J Hum Genet41:203-8 1996 |
PubMed ID: 8914636 |
|
Leach RJ, Chinn R, Reus BE, Hayes S, Schantz L, Dubois B, Overhauser J, Ballabio A, Drabkin H, Lewis TB, et al, Regional localization of 188 sequence tagged sites on a somatic cell hybrid mapping panel for human chromosome 3. Genomics24:549-56 1994 |
PubMed ID: 7713507 |
|
Drabkin H, Wright M, Jonsen M, Varkony T, Jones C, Sage M, Gold S, Morse H, Mendez M, Erickson P, Development of a somatic cell hybrid mapping panel and molecular probes for human chromosome 3. Genomics8:435-46 1990 |
PubMed ID: 2286371 |
|
Gardiner K, Watkins P, Munke M, Drabkin H, Jones C, Patterson D, Partial physical map of human chromosome 21. Somat Cell Mol Genet14:623-37 1988 |
PubMed ID: 3194801 |
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