Description:
TETRALOGY OF FALLOT
CHROMOSOME DELETION
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Repository
|
NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
|
Cell Type
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Fibroblast
|
|
Transformant
|
Untransformed
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|
Race
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Black/African American
|
|
Relation to Proband
|
proband
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|
Confirmation
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Clinical summary/Case history
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|
ISCN
|
46,XX,der(1)(pter>p13.1::q21.1> p13.1::q21.1>q42.3:)
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|
Species
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Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Remarks |
Microcephaly; mental retardation; absent uterus, cervix, and upper vagina; ureteral reflux; otitis media; cyanotic congenital heart disease; 46,XX,del inv(1)(pter >p13.1::q21.1>p13.1::q21.1>q42.3:), unbalanced |
| Bailey SM, Meyne J, Cornforth MN, McConnell TS, Goodwin EH, A new method for detecting pericentric inversions using COD-FISH. Cytogenet Cell Genet75:248-53 1996 |
| PubMed ID: 9067435 |
| Passage Frozen |
2 |
| Split Ratio |
1:5 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Subcultivation Method |
trypsin-EDTA |
| Supplement |
- |
|
|