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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Not 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 before cell line submission to CCR
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ISCN
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46,XY.arr[hg19] 15q11.1q14(20071672-39159831)x2 hmz,15q23q26.2(71844710-95806702)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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| Remarks |
Clinically affected; diagnosed at age 1 month; symptom onset at birth; decreased fetal motion; spontaneous delivery at 36 weeks gestation; hypotonia; poor feeding and suck at birth; birth weight:2587 g (25%), length: 51 cms (10-25%), head circumference: 32 cms (10-25%); exam at 8.5 months of age: mild plagiocephaly; mild facial asymmetry; small anterior fontanelle; thin, pale skin and hair; blue eyes; upslanting palpebral fissures; small anteverted nares; small mouth with downturned corners; small low-set nipples; adiposity in abdomen and thighs; small hands with faint creases; straight calves and loss of ankle definition; small, puffy, edematous feet; small scrotum; bilateral cryptorchidism; hydronephrosis; hyperlaxity; decreased reflexes; sleep apnea; failure to thrive; developmental delay; rolled over at 7.5 months; fine motor delay; gross motor delay; methylation test for PWS positive; molecular analysis of chromosome 15 polymorphic DNA markers revealed only maternal alleles in the proband consistent with maternal uniparental disomy (UPD); array CGH revealed an additional maternally inherited microdeletion at 13q12.13 spanning approximately 111 kilobases; the deleted interval is contained within the ATP8A2 gene where it overlaps at least 3 exons (OMIM #605870); treatments: growth hormone (starting at age 1), G-tube- age 1 month-5 months; therapies: physical therapy; apnea monitor. |
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