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,del(15)(pter>q11.2::q13>qter).ish del(15)(D15S63-,ICBD3-,SNRPN-,PAR-5-,154P1+)
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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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| Cytogenetics |
Chromosome 15: DELETION Aneuploid Segment (-)15q11>15q13 |
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Chromosome 15: DELETION Aneuploid Segment (-)15q11.2>15q13 |
| Remarks |
Hypotonia; feeding difficulties; postmaturity; small hands and feet; failure to thrive; normal CT scan; normal EEG; 46, XX,del(15)(pter>q11.2::q13>qter) |
| 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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| Bahuau M, Laurendeau I, Pelet A, Assouline B, Lamireau T, Taine L, Le Bail B, Vergnes P, Gallet S, Vidaud M, Lyonnet S, Lacombe D, Vidaud D, Tandem duplication within the neurofibromatosis type 1 gene (NF1) and reciprocal t(15;16)(q26.3;q12.1) translocation in familial association of NF1 with intestinal neuronal dysplasia type B (IND B) [letter] J Med Genet37:146-50 2000 |
| PubMed ID: 10712107 |
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| Maiwald R, Overhauser J, Laccone F, No evidence for imprinting in distal 18q [letter] J Med Genet37:152-6 2000 |
| PubMed ID: 10712109 |
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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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| 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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