Description:
SMITH-MAGENIS SYNDROME; SMS
RETINOIC ACID-INDUCED GENE 1; RAI1
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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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IRISH/SCOTTISH
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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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Clinical summary/Case history
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ISCN
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46,XX,del(17)(p11.2p11.2).arr[hg19] 1q31.3(196738610-196847963)x1,15q11.1q11.2(20284053-22681064)x1,17p11.2(16740269-20431257)x1,21q22.3(47213930-47489546)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; decreased fetal movements; premature delivery at 35 weeks; absent or sparse speech; defective vision; pupil abnormality; facial asymmetry; seizures; decreased pain sensitivity; dry skin; brachydactyly; scoliosis; failure to thrive; fine motor delay; short stature; overweight/obese; sleep disturbance; repetitive behaviors; self-injurious behaviors; disruptive behavior disorder; unaffected mother is GM24538 (lymph). |
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