Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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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
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White
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Relation to Proband
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proband
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Confirmation
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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XY,+18[25].arr[hg19] 18p11.32q23(11,542-78,015,057)x3
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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 |
1 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| Cytogenetics |
Chromosome 18: ANEUPLOID Aneuploid Segment (+)18pter>18qter |
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Chromosome 18: ANEUPLOID Trisomic Segment 18pter>18qter |
| Remarks |
Classical trisomy 18 syndrome findings |
| Shi J, Tan P, Han D, Zhang R, Li J, Zhang R, Non-invasive prenatal screening for foetal trisomy: An assessment of reliability and reporting Clinical biochemistry100:71-77 2021 |
| PubMed ID: 34843730 |
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| Kim SY, Lee SM, Kim SM, Kim BJ, Koo JN, Oh IH, Oh S, Park CW, Jun JK, Lim JH, Ryu HM, Park JS, Novel method of real-time PCR-based screening for common fetal trisomies BMC medical genomics14:195 2020 |
| PubMed ID: 34330281 |
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| Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE, Detection of aneuploidies by paralogous sequence quantification Journal of medical genetics41:908-15 2004 |
| PubMed ID: 15591276 |
| Passage Frozen |
1 |
| Split Ratio |
1:6 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| 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 |
| Supplement |
- |
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