NA05296
DNA from Fibroblast
Description:
CHROMOSOME INSERTION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
46,XX,der(11)(11pter>11p13::10q21>10q24::11p13>11qter)mat
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 11 |
Gessler et al (Am J Hum Genet 44:486-495,1989) utilized 37 DNA probes which map to the WAGR region of chromosome 11 to define the WAGR gene loci and provide a high resolution map of this region. DNA from this cell culture showed reduced dosage, indicative of a heterozygous deletion, for at least some of the probes tested. |
| |
| Cytogenetics |
Chromosome 10: DERIVATIVE CHROMOSOME Aneuploid Segment (+)10q21>10q24 |
|
Chromosome 10: DERIVATIVE CHROMOSOME Trisomic Segment 10q21>10q24 |
|
Chromosome 10: INSERTION Aneuploid Segment (+)10q21>10q24 |
|
Chromosome 10: INSERTION Trisomic Segment 10q21>10q24 |
| Remarks |
Multiple congenital malformations; dysmorphic features; intrauterine growth retardation; heart murmur; cleft palate; equinovarus deformity; microcephaly; coloboma of right iris; clinodactyly; reduced RBC catalase activity; 1 copy of catalase gene |
| Pinkel D, Albertson DG, Comparative genomic hybridization. Annu Rev Genomics Hum Genet6:331-54 2005 |
| PubMed ID: 16124865 |
| |
| Gessler M, Thomas GH, Couillin P, Junien C, McGillivray BC, Hayden M, Jaschek G, Bruns GA, A deletion map of the WAGR region on chromosome 11. Am J Hum Genet44:486-95 1989 |
| PubMed ID: 2539014 |
| |
| Taysi K, Yang V, Monaghan N, Beraha N, Partial trisomy 10q in three unrelated patients. Ann Genet26:79-85 1983 |
| PubMed ID: 6604490 |
|
|