Description:
FRASER SYNDROME
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases |
| Class |
Other Disorders of Known Biochemistry |
| Alternate IDs |
GM17107 [FRASER SYNDROME] |
| 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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Black/African American
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Ethnicity
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AFRICAN-AMERICAN
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Family Member
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3
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Relation to Proband
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father
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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 and by Chromosome Analysis |
| |
| Remarks |
Clinically unaffected; 2 affected children; affected son is GM10379 and GM10381 Fibroblast; 46,XY,inv(9) with 10% random chromosome loss in lymphoblasts; affected son has same inv(9) |
| Bouaoud J, Olivetto M, Testelin S, Dakpe S, Bettoni J, Devauchelle B, Fraser syndrome: review of the literature illustrated by a historical adult case International journal of oral and maxillofacial surgery: 2019 |
| PubMed ID: 31982235 |
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