NA25372
DNA from Fibroblast
Description:
SMITH-MAGENIS SYNDROME; SMS
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Biopsy Source
|
Skin
|
Cell Type
|
Fibroblast
|
Tissue Type
|
Skin
|
Transformant
|
Untransformed
|
Sample Source
|
DNA from Fibroblast
|
Race
|
White
|
Ethnicity
|
Not Hispanic/Latino
|
Ethnicity
|
POLISH
|
Country of Origin
|
USA
|
Family Member
|
1
|
Family History
|
N
|
Relation to Proband
|
proband
|
Confirmation
|
Karyotypic analysis and Case history
|
ISCN
|
46,XY,del(17)(p11.2).arr[hg19]17p11.2(16757134-18073610)x1
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
PDL at Freeze |
5.6 |
Passage Frozen |
2 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
|
Remarks |
Clinically affected; symptom onset at birth; diagnosis at age 15 years via FISH test; brachycephaly; midface retrusion (hypoplasia); frontal bossing; broad nasal bridge; abnormal ear shape; down-turned upper lip; prognathism; defective vision; iris abnormalities; decreased pain sensitivity; hypotonia; 1 leg shorter by 1.5cm; hip dysplasia; femoral acetabular impingement; pes planus; scoliosis; vertebral anomaly; elbow limitations; fine motor delay; gross motor delay; short stature; intellectual delay (IQ showed 60 and 61 on separate tests); sleep disturbance; brief period of self-injurious behavior; medications include Depakote, Risperdone and Lyvoxal; see lymph (GM24296); unaffected father is GM24297; unaffected mother is GM24298. |
|
|