Description:
PRADER-WILLI SYNDROME; PWS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| 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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Ethnicity
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Hispanic/Latino
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Country of Origin
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USA
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Family History
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N
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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.arr[hg19] 15q12q22.2(26037074-61015174)x2 hmz,15q25.1q26.3(80234473-102165803)x2 hmz
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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 LINE assay |
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| Gene |
SNRPN |
| Chromosomal Location |
15q12 |
| Allelic Variant 1 |
; PRADER-WILLI SYNDROME |
| Identified Mutation |
DEL MATERNAL EXON ALPHA |
| Remarks |
Clinically affected; diagnosed at 16 days; symptom onset at birth; mild facial dysmorphia associated with PWS; difficulty feeding after birth; hypotonia; right hip subluxation; undescended testes, pervasive developmental delay; no speech; positive methylation study; FISH confirmed karyotype iscn: 46, XY .ish cen 15(ccp15x3)mat,15q11-13(SNRPNx2); FISH study of proband’s mother (not in catalog) with chr 15 probe revealed same hybridization of three D-group chromosomes as proband, indicating presence of three centromeres on chromosome 15; surgeries: orchiopexy at age 2 years; right dega pelvic osteotomy at age 3 years; medications: growth hormone. |
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