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
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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis before cell line submission to CCR
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ISCN
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47,XY,der(1)(3qter->3q26.3;1p36.3->1qter),+9.arr[hg19] 1p36.33p36.31(707,086-6,864,614)x1,3q26.33q29(182,373,684-197,821,447)x3,9p24.3q34.3(46,586-141,091,382)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;3)(p36.33;q27) |
| Remarks |
Clinically affected; dysmorphic facial features; ventricular septal defect; lamellar cataracts; broncho-pulmonary dysplasia; poorly developed lungs; diastasis recti; diffuse hypotonia; seizure onset at 1 month of age, noted by jaw jerking and quivering; polymicrogria, with symmetrical cortical malformation and abnormal white matter; 6.8 MB de novo deletion of chromosome 1p36 (derivative, +3q). |
| 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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| Dobyns WB, Mirzaa G, Christian SL, Petras K, Roseberry J, Clark GD, Curry CJ, McDonald-McGinn D, Medne L, Zackai E, Parsons J, Zand DJ, Hisama FM, Walsh CA, Leventer RJ, Martin CL, Gajecka M, Shaffer LG, Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p363, 2p161-p231, 4q2121-q221, 6q26-q27, and 21q2 American journal of medical genetics Part A146A:1637-54 2008 |
| PubMed ID: 18536050 |
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| 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 FITC detects CEB108/T7,Spectrum Orange detects D3S4560,DAPI counterstain |
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FISH Texas Red detects SKI,FITC detects D1S3739,DAPI counterstain |
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karyotype Texas Red detects SKI,FITC detects D1S3739,DAPI counterstain |
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MicroArray KaryotView of the copy number segment changes detected by the Affymetrix Genome Wide Human SNP Array 6.0 |
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