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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Ethnicity
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MEXICAN
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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 before cell line submission to CCR
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ISCN
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46,XX,1qh+[50].arr 22q11.21(18876415-19006984)x3
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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 |
Affected; mother had gestational diabetes which was well controlled; subject required intubation from birth until day of life 4; supplemental feeding by NG tube; mild micrognathia; anteverted tip of the nose; high-arched palate; short and broad neck; low anterior and posterior hairline; generalized mild hypotonia; short stature; bilateral astigmatism; strabismus; early onset morbid obesity, primarily abdominal fat distribution; mildly hypoplastic labia minora; tapered fingers; short 4th and 5th metacarpals; mild scoliosis; obstructive sleep apnea; staring episodes, but no seizures; microsatellite testing revealed maternal uniparental disomy of chromosome 15; normal head ultrasound; normal echo; borderline prolonged QT segment on EKG; head MRI showed delayed myelination pattern; swallow study revealed silent aspiration in supine position only; development assessment using Bayley Scale of Infant Development at approximately 12 months revealed cognitive score:65 (low), language (74) borderline, motor (61) low, social-emotional (60) low, general adaptive (53), low; treatments include occupational therapy, physical therapy and growth hormone.
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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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