NA01396
DNA from Fibroblast
Description:
TRANSLOCATED CHROMOSOME
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities
dbGaP |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XY,der(10)t(10;16)(q26;q22)pat.arr 2p13.2(73023512-73649253)x1,10q26.3(133238728-135356682)x1,16q22.2q24.3(69746299-88815024)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
3 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 10: DERIVATIVE CHROMOSOME Aneuploid Segment (-)10q26>10qter |
|
Chromosome 16: DERIVATIVE CHROMOSOME Aneuploid Segment (+)16q22>16qter |
|
Chromosome 16: DERIVATIVE CHROMOSOME Trisomic Segment 16q22>16qter |
| Remarks |
Mental retardation; no speech and questionable hearing; clinically normal father's leukocytes show 46,XY,t(10;16) (q26;q22) |
| 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 |
| |
| Callen DF, Hyland VJ, Baker EG, Fratini A, Simmers RN, Mulley JC, Sutherland GR, Fine mapping of gene probes and anonymous DNA fragments to the long arm of chromosome 16. Genomics2:144-53 1988 |
| PubMed ID: 2900808 |
| |
| Callen DF, A mouse-human hybrid cell panel for mapping human chromosome 16. Ann Genet29:235-9 1986 |
| PubMed ID: 3495225 |
| |
| Emanuel B, Zackai EH, Mellman WJ, Aronson MM, Greene AE, Coriell LL, A culture with a derivative chromosome 10 from a paternal (10;16) translocation. Repository identification no. GM-1396. Cytogenet Cell Genet19:240 1977 |
| PubMed ID: 598254 |
|
|