Description:
ANGELMAN SYNDROME; AS
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
| 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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46,XX,del(15)(q11.2q13).ish del(15)(q11.2q13)(D15Z1+,D15S10/UBE-,PML+).arr 15q11.2q13.1(21192942-26234399)x1
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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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| Remarks |
Clinically affected; began walking at age 3 years; movement disorder characterized by ataxia; no speech; inappropriately happy affect with excessive laughter; severe mental retardation; abnormal EEG and seizures noted at age 22 months; microbrachycephaly with head circumference less than -2 standard deviations; relative prognathism; protruding tongue; excessive drooling; head CT and MRI revealed only enlarged foramen magnum; maternal deletion of 15q11-q13; DNA methylation results: DN34, PW71, and SNRPN consistent with Angelman syndrome. |
| 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 |
| |
| Lossie AC, Driscoll DJ, Transmission of Angelman syndrome by an affected mother. Genet Med1(6):262-6 1999 |
| PubMed ID: 11258627 |
| View |
copy number variation |
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FISH GM20411:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
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FISH GM20411:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
karyotype GM20411:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
karyotype GM20411:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
karyotype GM20411:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
|
karyotype GM20411:
D15S10 probe:
Spectrum Green detects 15p11.2;
Spectrum Orange detects 15q11-13;
Spectrum Orange detects 15q22;
dapi counterstain |
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