NA03119
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
Repository
|
NIGMS Human Genetic Cell Repository
|
Subcollection |
Chromosome Abnormalities |
Quantity |
10 µg |
Quantitation Method |
Please see our FAQ |
Cell Type
|
Fibroblast
|
Transformant
|
Untransformed
|
Sample Source
|
DNA from Fibroblast
|
Race
|
White
|
Family Member
|
2
|
Relation to Proband
|
mother
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
ISCN
|
46,XX,t(9;17)(9qter>9p22::17p11>17pter; 17qter>17p11::9p22>9pter)
|
Species
|
Homo sapiens
|
Common Name
|
Human
|
Remarks
|
|
Passage Frozen |
4 |
|
IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
|
Cytogenetics |
Chromosome 17: TRANSLOCATION Breakpoint 17p11 t(9;17)17p11 |
|
Chromosome 9: TRANSLOCATION Breakpoint 9p22 t(9;17)9p22 |
Remarks |
Fetus is GM03100A Amniotic; history of several spontaneous abortions |
Stankiewicz P, Shaw CJ, Dapper JD, Wakui K, Shaffer LG, Withers M, Elizondo L, Park SS, Lupski JR, Genome architecture catalyzes nonrecurrent chromosomal rearrangements. Am J Hum Genet72(5):1101-16 2003 |
PubMed ID: 12649807 |
|
|