Description:
TURNER SYNDROME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| 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
|
Not Hispanic/Latino
|
|
Ethnicity
|
Italian and Irish
|
|
Country of Origin
|
USA
|
|
Family Member
|
1
|
|
Family History
|
N
|
|
Relation to Proband
|
proband
|
|
ISCN
|
45,X[6]/46,XX[14].arr Xp22.33p22.32(168464-5525468)x1,Xp22.32q28(5525469-155075862)x1~2,6q26(162726479-162914277)x3,15q11.1q11.2(20585975-21150263)x1
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
| |
| Remarks |
Clinically affected with mosaic Turner syndrome; diagnosed at age 7; symptom onset at age 3.5; short stature; irritable bowel syndrome; learning disability; attention deficit disorder; karyotype result: 45,X[12]/46,XX[19]; FISH result: ish Xcen(CEPX).Yp11.3(SRYx0)[15]/Xcen(CEPX),Yp11.3.(SRYx0)[16]; unaffected mother is
GM24465 (Lymph). |
| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
|
|