Description:
NIJMEGEN BREAKAGE SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Repair Defective and Chromosomal Instability Syndromes |
| Class |
Syndromes with Increased Chromosome Breakage |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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Ethnicity
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POLISH
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Family Member
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3
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Relation to Proband
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sister
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Confirmation
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Clinical summary/Case history
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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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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase,Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis |
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| Remarks |
Clinically unaffected; affected siblings are GM15818 and GM15819 |
| Saar K, Chrzanowska KH, Stumm M, Jung M, Nurnberg G, Wienker TF, Seemanova E, Wegner RD, Reis A, Sperling K, The gene for the ataxia-telangiectasia variant, Nijmegen breakage syndrome, maps to a 1-cM interval on chromosome 8q21. Am J Hum Genet60:605-10 1997 |
| PubMed ID: 9042920 |
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| Chrzanowska KH, Kleijer WJ, Krajewska-Walasek M, Bialecka M, Gutkowska A, Goryluk-Kozakiewicz B, Michalkiewicz J, Stachowski J, Gregorek H, Lyson-Wojciechowska G, et al, Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome. Am J Med Genet57:462-71 1995 |
| PubMed ID: 7545870 |
| Gene Cards |
NBS1 |
| NCBI GTR |
251260 NIJMEGEN BREAKAGE SYNDROME; NBS |
| OMIM |
251260 NIJMEGEN BREAKAGE SYNDROME; NBS |
| Omim Description |
ATAXIA-TELANGIECTASIA VARIANT V1; AT-V1 |
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IMMUNODEFICIENCY, MICROCEPHALY, AND CHROMOSOMAL INSTABILITY |
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MICROCEPHALY WITH NORMAL INTELLIGENCE, IMMUNODEFICIENCY, AND LYMPHORETICULARMALIGNANCIES |
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NBS |
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NIJMEGEN BREAKAGE SYNDROME |
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NONSYNDROMAL MICROCEPHALY, AUTOSOMAL RECESSIVE, WITH NORMAL INTELLIGENCE |
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SEEMANOVA SYNDROME II |
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