Description:
CHROMOSOME DELETION
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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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,XY,del(5)(p14p14)pat.ish del(5)(p14p14)(189N21+).arr 1p36.32p36.31(4325610-10925166)x1,5p14.3p14.1(18601001-27465930)x1 pat
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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: DELETION Aneuploid Segment (-)1p36.22>1p36.32 |
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Chromosome 5: DELETION Aneuploid Segment (-)5p14.1>5p14.3 |
| Remarks |
Hyperbilirubinaemia at birth due to ABO incompatibility; mild aortic stenosis; developed generalized tonic-clonic seizures at age 17 months with fever; developmental delay; speech delay; microcephaly; plagiocephaly; midfacial hypoplasia; misshapen ears with curvature of the pinnae and a slight decrease in the palpebral folds; father (GM50275) also has 5p14 deletion; mother's karyotype is normal |
| 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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| Johnson EI, Marinescu RC, Punnett HH, Tenenholz B, Overhauser J, 5p14 deletion associated with microcephaly and seizures. J Med Genet37(2):125-7 2000 |
| PubMed ID: 10662813 |
| View |
FISH Spectrum Green detects 5pter |
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karyotype Spectrum Green detects 5pter |
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