Description:
MARSHALL 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 |
| 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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|
Family Member
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1
|
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Relation to Proband
|
proband
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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 |
| |
| Remarks |
Mother, maternal grandfather, & 2 sibs are also affected; hypertelorism; ectodermal dysplasia; heart murmur; bilateral cryptorchidism; developmental delay; decreased visual acuity; scoliosis; see GM10981 Fibroblast |
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