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,XY,del(15)(q11.2q13).ish del(15)(q11.2q13)(SNRPN-,154P1+).arr 15q11.2q13.1(21205647-26500067)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 |
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| Cytogenetics |
Chromosome 15: DELETION Aneuploid Segment (-)15q11>15q13 |
| Remarks |
46,XY,del(15)(q11.2q13); hypotonia; poor suck reflex at birth; failure to thrive followed by hyperphagia; developmental delay; short stature; small hands and feet; hypogonadism; small penis; cryptorchidism; almond shaped eyes; behavior problems and mental retardation |
| 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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| 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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| 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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| Latt, Mapping, characterization, and diagnostic utilization of 10 DNA segments from the proximal long arm of human chromosome 15. Cytogenet Cell Genet46:644 (1987):1011-4 1987 |
| PubMed ID: 9004133 |
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| Donlon TA, Lalande M, Wyman A, Bruns G, Latt SA, Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome [published erratum appears in Proc Natl Acad Sci U S A 1986 Sep;83(18):6964] Proc Natl Acad Sci U S A83:4408-12 1986 |
| PubMed ID: 3012567 |
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