Name：NTCC? NA23832 LCL DNA
Category分類：DNA
Cat#貨號:NTCC?-Coriell NA23832
Size/Quantity數(shù)量: 1 Vial
Biosafety Level生物安全級別:1
Shipping Info運輸方式: RT
Storage儲存方式: 4C
Species物種來源:
Age年齡: 1 YR
Gender性別: Female
Description描述: PRADER-WILLI SYNDROME; PWS
Remarks: Affected; mother had gestational diabetes which was well controlled; subject required intubation from birth until day of life 4; supplemental feeding by NG tube; mild micrognathia; anteverted tip of the nose; high-arched palate; short and broad neck; low anterior and posterior hairline; generalized mild hypotonia; short stature; bilateral astigmatism; strabismus; early onset morbid obesity, primarily abdominal fat distribution; mildly hypoplastic labia minora; tapered fingers; short 4th and 5th metacarpals; mild scoliosis; obstructive sleep apnea; staring episodes, but no seizures; microsatellite testing revealed maternal uniparental disomy of chromosome 15; normal head ultrasound; normal echo; borderline prolonged QT segment on EKG; head MRI showed delayed myelination pattern; swallow study revealed silent aspiration in supine position only; development assessment using Bayley Scale of Infant Development at approximately 12 months revealed cognitive score:65 (low), language (74) borderline, motor (61) low, social-emotional (60) low, general adaptive (53), low; treatments include occupational therapy, physical therapy and growth hormone.
Alternate IDs其他編號:
Cell Type細胞類型: LCL
Source組織來源: LCL
Gene: SNRPN
Disease疾病類型:
Mutations突變: DEL MATERNAL EXON ALPHA
Karyotypes核型:
Cytogenetics:
Mutation description突變描述:
Origin:
Transformants:
Alias別名:
Images圖片:
References參考文獻:

Supplier供應(yīng)商:
BioVector質(zhì)粒載體菌株細胞蛋白抗體基因保藏中心
NTCC典型培養(yǎng)物保藏中心
Tel電話：400-800-2947
Email：Biovector@163.com
http://www.biovector.net