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 |
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 Member
|
1
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Family History
|
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] 15q11.1(20262223-22673387)x1,17p11.2(16740269-20354018)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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected; symptom onset at birth; diagnosis at 2 weeks of age; decreased fetal movement; breech birth; ear malformation; dry skin; bilateral foot anomalies; hearing defect; hypotonia; decreased pain sensitivity; constipation; hypospadias; fine motor delay; gross motor delay; absent or sparse speech; short stature; learning disability; intellectual disability; sleep disturbance; self-injurious behaviors; unaffected mother is GM24292 (Lymph) and unaffected father is GM24293 (Lymph). |
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