Description:
SMITH-MAGENIS SYNDROME; SMS
RETINOIC ACID-INDUCED GENE 1; RAI1
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
PIGI Consented Sample |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Ethnicity
|
Hispanic/Latino
|
|
Ethnicity
|
CUBAN/URUGUAYAN
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Molecular characterization before cell line submission to CCR
|
|
ISCN
|
46,XX,del(17)(p12p11.2).arr[hg19] 14q13.2(35428982-35782300)x3,17p12p11.2(15650617-18752570)x1,22q11.21(18876415-19006984)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| 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). |
|
|