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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Clinical summary/Case history
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ISCN
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46,XX,t(2;22)(22qter->22q11.2::2p11.2->2qter;22pter->22q11.2::2p11.2->2pter),del(15)(pter->q11.2::q13->qter)[2]/46,XX,del(15)(pter->q11.2::q13->qter)[18]
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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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| Remarks |
Obese; mental retardation; hypogonadism; small hands and feet; hypotonia; 46,XX, del(15)(pter>q11.2::q13>qter) |
| Tan VJ, Liu T, Arifin Z, Pak B, Tan ASC, Wong S, Khor CC, Yang H, Lee CG, Huang Z, Choolani MA, Chong SS, Third-Generation Single-Molecule Sequencing for Preimplantation Genetic Testing of Aneuploidy and Segmental Imbalances Clinical chemistry: 2022 |
| PubMed ID: 37477572 |
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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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| Sahoo T, Shaw CA, Young AS, Whitehouse NL, Schroer RJ, Stevenson RE, Beaudet AL, Array-based comparative genomic hybridization analysis of recurrent chromosome 15q rearrangements American journal of medical genetics Part A139:106-13 2005 |
| PubMed ID: 16284940 |
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| Fulmer-Smentek SB, Francke U, Association of acetylated histones with paternally expressed genes in the Prader--Willi deletion region. Hum Mol Genet10(6):645-52 2001 |
| PubMed ID: 11230184 |
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| de Los Santos T , Schweizer J, Rees CA, Francke U, Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the prader-willi deletion region, which Is highly expressed in brain. Am J Hum Genet67(5):1067-82 2000 |
| PubMed ID: 11007541 |
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| Kosaki K, McGinniss MJ, Veraksa AN, McGinnis WJ, Jones KL, Prader-Willi and Angelman syndromes: diagnosis with a bisulfite-treated methylation-specific PCR method. Am J Med Genet73:308-13 1997 |
| PubMed ID: 9415690 |
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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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