NA09210
DNA from Fibroblast
Description:
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
CHROMOSOME DELETION
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders of the Nervous System |
| Quantity |
0.050mg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Testes
|
|
Cell Type
|
Fibroblast
|
|
Tissue Type
|
Gonad
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Family Member
|
1
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY,del(17)(qter>p13.1:)
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| 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 |
| |
| Cytogenetics |
Chromosome 17: DELETION Aneuploid Segment (-)17pter>17p13 |
| Remarks |
Testis fibroblast culture; microcephaly; lissencephaly; anteverted nares; ear abnormalities; micrognathia; clinodactyly; sacral dimple; hydrocephalus; severe cerebral atrophy; poor development of frontal and temporal lobes; cerebellum poorly developed; 46,XY,del(17) (qter>p13.1:); see GM09208 diaphragm fibroblast culture and GM09209 lung fibroblast culture from this same fetus |
|
|