NA07151
DNA from Fibroblast
Description:
TETRALOGY OF FALLOT
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities
DGAP
dbGaP |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,X,t(X;17)(p11.2;p11.2).arr(1-22,X)x2
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
7 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase and Glucose-6-Phosphate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 17: TRANSLOCATION Breakpoint 17p11 t(X;17)17p11 |
|
Chromosome X: TRANSLOCATION Breakpoint Xp11 t(X;17)Xp11 |
| Remarks |
Multiple congenital defects including cleft palate, coloboma, Tetralogy of Fallot, and abnormal genitalia and extremities; 46,X,t(X;17)(Xqter>Xp11.21::17p 11.1>17pter;17qter>17p11.1::Xp11.21> Xpter); balanced |
| 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 |
| |
| Lafreniere RG, Brown CJ, Powers VE, Carrel L, Davies KE, Barker DF, Willard HF, Physical mapping of 60 DNA markers in the p21.1----q21.3 region of the human X chromosome. Genomics11:352-63 1991 |
| PubMed ID: 1685139 |
| |
| Trent JM, Flink IL, Morkin E, van Tuinen P, Ledbetter DH, Localization of the human thyroxine-binding globulin gene to the long arm of the X chromosome (Xq21-22). Am J Hum Genet41:428-35 1987 |
| PubMed ID: 3115094 |
| |
| van Tuinen P, Rich DC, Summers KM, Ledbetter DH, Regional mapping panel for human chromosome 17: application to neurofibromatosis type 1. Genomics1:374-81 1987 |
| PubMed ID: 3130306 |
| |
| Chen SH, Van Tuinen P, Ledbetter DH, Smith LC, Chan L, Human liver fatty acid binding protein gene is located on chromosome 2. Somat Cell Mol Genet12:303-6 1986 |
| PubMed ID: 3012800 |
| |
| Disteche CM, Swisshelm K, Forbes S, Pagon RA, X-inactivation patterns in lymphocytes and skin fibroblasts of three cases of X-autosome translocations with abnormal phenotypes. Hum Genet66:71-6 1984 |
| PubMed ID: 6698557 |
|
|