Description:
PRADER-WILLI SYNDROME; PWS
DUPLICATED CHROMOSOME
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 |
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
|
Sample Source
|
DNA from LCL
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Race
|
White
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Family Member
|
1
|
Relation to Proband
|
proband
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Confirmation
|
Karyotypic analysis after cell line submission to CCR
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ISCN
|
46,XY,dup(15)(q11q12).arr 15q11.2(18525979-20089383)x4,15q11.2(22554108-22777464)x1
|
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: DUPLICATION Aneuploid Segment (+)15q11>15q12 |
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Chromosome 15: DUPLICATION Trisomic Segment 15q11>15q12 |
Remarks |
At age 10, weight >95th percentile, height 5th percentiile, and OFC 50th percentile; typical facies; hypoplastic tooth enamel with multiple caries; fair skin, blond hair, and blue irides; small hands and feet; small penis; mild hypotonia; 46,XY,dup(15)(q11>q12); same subject as GM13553 (sampled at age 17 years) |
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 |
|
Schüle B, Albalwi M, Northrop E, Francis DI, Rowell M, Slater HR, Gardner RJ, Francke U, Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q112) associated with Prader-Willi syndrome BMC medical genetics [electronic resource]6:18 2005 |
PubMed ID: 15877813 |
|
Pettigrew AL, Gollin SM, Greenberg F, Riccardi VM, Ledbetter DH, Duplication of proximal 15q as a cause of Prader-Willi syndrome. Am J Med Genet28:791-802 1987 |
PubMed ID: 3688017 |
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