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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Hispanic/Latino
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Ethnicity
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CUBAN/URUGUAYAN
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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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Molecular characterization before cell line submission to CCR
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ISCN
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46,XX,del(17)(p12p11.2).arr[hg19] 14q13.2(35428982-35782300)x3,17p12p11.2(15650617-18752570)x1,22q11.21(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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| Remarks |
Clinically affected; symptom onset at age 2 years; diagnosed at age 5; dysmorphic facial features; brachycephaly; mid-face hypoplasia; dental abnormalities; brachydactyly; pes planus; foot anomaly (bilateral); hypopigmentation; aplastic pituitary; defective vision; weakness; hypotonia; ataxia; decreased pain sensitivity; hoarse voice; asthma; hypothyroidism; frequent pneumonia as a toddler; fine motor delay; gross motor delay; speech delay; learning disability; intellectual disability; ADHD; self-injurious behavior; see GM24315 (Fibro); unaffected mother is GM24290 (Lymph); unaffected father is GM24289 (Lymph). |
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