Description:
MILLER-DIEKER LISSENCEPHALY SYNDROME; MDLS
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Disorders of the Nervous System |
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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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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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Clinical summary/Case history
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ISCN
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46,XY,del(17)(:p13.1->qter)
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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 |
3 |
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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 |
| |
| Cytogenetics |
Chromosome 17: DELETION Aneuploid Segment (-)17pter>17p13 |
| Remarks |
Diaphragm 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 GM09209 lung fibroblast culture and GM09210 testis fibroblast culture from this same fetus |
| Peiffer DA, Le JM, Steemers FJ, Chang W, Jenniges T, Garcia F, Haden K, Li J, Shaw CA, Belmont J, Cheung SW, Shen RM, Barker DL, Gunderson KL, High-resolution genomic profiling of chromosomal aberrations using Infinium whole-genome genotyping Genome research16:1136-48 2006 |
| PubMed ID: 16899659 |
| Passage Frozen |
3 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
MEM (Eagle) Alpha Modification with nucleosides with 2mM L-glutamine or equivalent |
| Serum |
20% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
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