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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Race
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White
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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.ish del(15)(q11.2q13)(D15Z1+,D15S10-,PML+).arr 15q11.2q13.1(19803357-26872582)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 Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 15: DELETION Aneuploid Segment (-)15q11>15q13 |
| Remarks |
Ataxic movements; inappropriate laughter; neonatal hypotonia; fair-skinned and blond; no speech; decreased muscle tone; flattened occiput; prominent jaw |
| Goh CJ, Kwon HJ, Kim Y, Jung S, Park J, Lee IK, Park BR, Kim MJ, Kim MJ, Lee MS, Improving CNV Detection Performance in Microarray Data Using a Machine Learning-Based Approach Diagnostics (Basel, Switzerland)14: 2023 |
| PubMed ID: 38201393 |
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| 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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| Kubota T, Aradhya S, Macha M, Smith AC, Surh LC, Satish J, Verp MS, Nee HL, Johnson A, Christan SL, Ledbetter DH, Analysis of parent of origin specific DNA methylation at SNRPN and PW71 in tissues: implication for prenatal diagnosis. J Med Genet33(12):1011-4 1996 |
| PubMed ID: 9004133 |
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| Knoll JH, Nicholls RD, Magenis RE, Glatt K, Graham JM Jr, Kaplan L, Lalande M, Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers. Am J Hum Genet47:149-55 1990 |
| PubMed ID: 1971993 |
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| Knoll JH, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA, Angelman and Prader-Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion. Am J Med Genet32:285-90 1989 |
| PubMed ID: 2564739 |
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