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 and In situ hybridization
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ISCN
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46,XY[19].arr[GRCh37]15q11.2q13.1(22673386_28530359)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 |
Small head, wide face, prominent ears, and drooling, smiling mouth; developmental delay; autism; seizures; exotropia; feeding problems; no speech development; del(15) confirmed by FISH with AS and PWS cosmid probes |
| 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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| Kucharik M, Gnip A, Hyblova M, Budis J, Strieskova L, Harsanyova M, Pös O, Kubiritova Z, Radvanszky J, Minarik G, Szemes T, Non-invasive prenatal testing (NIPT) by low coverage genomic sequencing: Detection limits of screened chromosomal microdeletions PloS one15:e0238245 2020 |
| PubMed ID: 32845907 |
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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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| Lee S, Wevrick R, Identification of novel imprinted transcripts in the Prader-Willi syndrome and
Angelman syndrome deletion region: further evidence for regional imprinting
control. Am J Hum Genet66(3):848-58 2000 |
| PubMed ID: 10712201 |
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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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| Magenis RE, Toth-Fejel S, Allen LJ, Black M, Brown MG, Budden S, Cohen R, Friedman JM, Kalousek D, Zonana J, et al, Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences. Am J Med Genet35:333-49 1990 |
| PubMed ID: 2309780 |
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