Description:
CHROMOSOME 1P36 DELETION SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| 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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Country of Origin
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USA
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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,XX.arr[hg19] 1p36.33(564620-1815981)x1,16q24.3(88880964-90287523)x3
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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 LINE assay |
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| Cytogenetics |
Chromosome 1: DERIVATIVE CHROMOSOME Aneuploid Segment (+)ish der(1)t(1;16)(p36.33;q24) |
| Remarks |
1.8 Mb deletion on chromosome 1p36 (de novo, derivative, 16q trip); der 1 t(1;16q) |
| Gajecka M, Mackay KL, Shaffer LG, Monosomy 1p36 deletion syndrome American journal of medical genetics Part C, Seminars in medical genetics145C:346-56 2007 |
| PubMed ID: 17918734 |
| View |
FISH Texas Red detects SKI, FITC detects D1S3739, DAPI counterstain |
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FISH Spectrum Green detects CEB108/T7, Spectrum Orange detects 16q013, DAPI counterstain |
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karyotype Spectrum Green detects CEB108/T7, Spectrum Orange detects 16q013, DAPI counterstain |
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