NTCC® NA23357 LCL DNA-BioVector NTCC典型培养物保藏中心Coriell NA23357

Name：NTCC® NA23357 LCL DNA
Category分类：DNA
Cat#货号:NTCC®-Coriell NA23357
Size/Quantity数量: 1 Vial
Biosafety Level生物安全级别:1
Shipping Info运输方式: RT
Storage储存方式: 4C
Species物种来源:
Age年龄: 5 YR
Gender性别: Female
Description描述: TURNER SYNDROME | ANEUPLOID CHROMOSOME NUMBER - TRISOMY
Remarks: Subject diagnosed with Mosaic Turner syndrome and trisomy 7q at approximately 1 year of age; 20 week ultrasound revealed enlarged ventricles, mother had premature rupture of membranes at 32 weeks, subject was born at 34 weeks with numerous neonatal problems: temperature dysregulation, initial hypoglycemia, shallow breathing, hyperbilirubinemia requiring phototherapy and significant feeding problems requiring NG tube; discharged at 23 days old; Dysmorphic features include: very fair translucent skin; easily visible vasculature; macrocephaly; high broad forehead; bitemporal narrowing; bony protuberance over the occiput; underdeveloped orbital ridges; delayed closure of anterior fontanel; synophyrs-central brow lighter in pigmentation; hypertelorism; upturned nose tip; low set ears; under bite; high arched palate; delayed dentition; bifid uvula; small sublingual frenulum; neck mildly short; pectus excavatum-chest relatively narrow; palpable spleen tip about 1 cm below left costal margin; significant scoliosis (thoraco-lumbar); prominence of the right paraspinal region when bending forward in sitting position; shallow sacral dimple; downy pubic hair; hyperextension of ankles and elbows; left hand clinodactyly with 1 palmar crease; right hand clinodactyly with 1 palmar crease; right leg bulkier than left; prominent heels with pes planus; broad first toes; small gap between the 4th and 5th toes; developmental delay; motor delay; hyptonia; arching noted at 4 months; flaps hands when excited; clenches fists; protrudes tongue at rest; tendency to point toes when supine, hyperextension of ankles; head lag; varied muscle tone; long history of constipation; history of serous otitis media; eustachian tube dysfunction; snoring; chronic rhinitis; tonsillar and adenoid disturbance; history of intermittent 锟絟eavy breathing锟?while sleeping; mouth breathing; abnormal female karyotype: 46,X,der(X)t(X;7)(24).ish 7q11.23 (ELN-)[24]/45,X[6]; XIST gene determined to be on the derivative X chromosome by XIST-containing BAC FISH probe; normal MRI; normal abdominal ultrasound, pelvic ultrasound and renal ultrasound; head x-ray revealed enlargement of the adenoidal soft tissues; echocardiogram revealed very mild prolapse of the anterior leaflet of the mitral valve and a prominence of the septum in the sub-aortic region with no LV outflow obstruction; assistive devices includes orthotics (DAFO锟絪); treatments include early intervention, physical, speech, and occupational therapy; communicates using sign language.
Alternate IDs其他编号:
Cell Type细胞类型: LCL
Source组织来源: LCL
Gene:
Disease疾病类型:
Mutations突变:
Karyotypes核型:
Cytogenetics:
Mutation description突变描述:
Origin:
Transformants:
Alias别名:
Images图片:
References参考文献:

Supplier供应商:
BioVector质粒载体菌株细胞蛋白抗体基因保藏中心
NTCC典型培养物保藏中心
Tel电话：400-800-2947
Email：Biovector@163.com
http://www.biovector.net