Description:
CHROMOSOME DELETION
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities |
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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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|
Race
|
White
|
|
Ethnicity
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IRAQI
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|
Family Member
|
1
|
|
Relation to Proband
|
proband
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Confirmation
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Clinical summary/Case history
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|
ISCN
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47,XX,+del(21)(pter>q21.1::q21.3>qter).ish del(21)(wcp21+,VIJ2yRM2029+)
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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 |
2 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 21: ANEUPLOID Aneuploid Segment (+)21pter>21q21 |
|
Chromosome 21: DELETION Aneuploid Segment (+)21pter>21q21 |
| Remarks |
Short stature & abnormal dermatoglyphics; one child with severe congenital malformations (Potter phenotype); see GM05881 Lymphoid |
| Passage Frozen |
2 |
| Split Ratio |
1:4 |
| 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 |
- |
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