Description:
PRADER-WILLI SYNDROME; PWS
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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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis and Case history
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ISCN
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46,XY,del(15)(pter>q11.2::q13.1>qter)
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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 |
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| GENE MAPPING & DOSAGE STUDIES - Y CHROMOSOME |
PCR analysis of DNA from this cell culture gave a positive result with a primer for Yq11, DYS227. |
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| Cytogenetics |
Chromosome 15: DELETION Aneuploid Segment (-)15q11>15q13 |
| Remarks |
Hypotonia; obesity; hyperphagia; hypogonadism; mental retardation; small hands and feet; hypopigmentation; 46,XY,del(15) (pter>q11.2::q13.1>qter); PWS critical region deletion confirmed by FISH analysis with cosmid probes |
| García-Pascual CM, Navarro-Sánchez L, Navarro R, Martínez L, Jiménez J, Rodrigo L, Simón C, Rubio C, Optimized NGS Approach for Detection of Aneuploidies and Mosaicism in PGT-A and Imbalances in PGT-SR Genes11: 2020 |
| PubMed ID: 32610655 |
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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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| Wevrick R, Kerns JA, Francke U, Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Hum Mol Genet3:1877-82 1994 |
| PubMed ID: 7849716 |
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| Tasset DM, Hartz JA, Kao FT, Isolation and analysis of DNA markers specific to human chromosome 15. Am J Hum Genet42:854-66 1988 |
| PubMed ID: 2897161 |
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| Butler MG, Meaney FJ, Palmer CG, Clinical and cytogenetic survey of 39 individuals with Prader-Labhart- Willi syndrome. Am J Med Genet23:793-809 1986 |
| PubMed ID: 3953677 |
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