Description:
TURNER SYNDROME
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,X,idic(X)(p10)[25]/46,X,del(X)(p10)[16]/45,X[9].arr Xp22.33p11.1(108464-56912309)x1,Xp11.1q28(62260103-153703648)x2˜3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| CNVPANEL |
For more information click here:CNVPANEL01 |
| |
| Cytogenetics |
Chromosome X: DELETION Aneuploid Segment (+)Xqter>Xq10 |
|
Chromosome X: DELETION Aneuploid Segment (-)Xpter>Xp10 |
|
Chromosome X: DELETION Trisomic Segment Xqter>Xq10 |
|
Chromosome X: ISOCHROMOSOME Aneuploid Segment (+)Xqter>Xq10 |
|
Chromosome X: ISOCHROMOSOME Aneuploid Segment (-)Xpter>Xp10 |
|
Chromosome X: ISOCHROMOSOME Trisomic Segment Xqter>Xq10 |
| Remarks |
Turner syndrome; 45,X/46,X,del(X)(p0)/ 46,X,i(Xq), 7%/50%/43% in PBL; 18%/32%/ 50% in lymphoblast culture |
| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
| |
| 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 |
|
|