NA24310
DNA from Fibroblast
Description:
SMITH-MAGENIS SYNDROME; SMS
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
PIGI Consented Sample |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Skin
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Cell Type
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Fibroblast
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Tissue Type
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Skin
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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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/GERMAN/IRISH
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Country of Origin
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USA
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Family Member
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1
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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 In situ hybridization
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ISCN
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46,XY,del(17)(p11.2p11.2).arr[hg19] 17p11.2(16769800-20354018)x1,17q12(34443799-34629684)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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| PDL at Freeze |
3.78 |
| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Clinically affected; symptom onset at 1 year of age; diagnosed at 14 months; dysmorphic facial features; brachycephaly; brachydactyly; short stature-growth hormone deficiency; strabismus; sensorineural hearing defect; hypotonia; decreased pain sensitivity; hoarse voice; pulmonic valve stenosis; small but normally functioning kidneys; fine motor delay; gross motor delay; speech delay; intellectual disability; sleep disturbances; repetitive behaviors; self-injurious behaviors; normal MRI; medications include growth hormone; unaffected mother is GM24273 (Lymph) and GM24309 (Fibro). |
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