NA05296
DNA from Fibroblast
Description:
CHROMOSOME INSERTION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
| Quantity |
50 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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46,XX,der(11)(11pter>11p13::10q21>10q24::11p13>11qter)mat
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| Passage Frozen |
2 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| 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. |
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| Cytogenetics |
Chromosome 10: DERIVATIVE CHROMOSOME Aneuploid Segment (+)10q21>10q24 |
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Chromosome 10: DERIVATIVE CHROMOSOME Trisomic Segment 10q21>10q24 |
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Chromosome 10: INSERTION Aneuploid Segment (+)10q21>10q24 |
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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 |
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| 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 |
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| Taysi K, Yang V, Monaghan N, Beraha N, Partial trisomy 10q in three unrelated patients. Ann Genet26:79-85 1983 |
| PubMed ID: 6604490 |
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