NA02732
DNA from Fibroblast
Description:
ANEUPLOID CHROMOSOME NUMBER - TRISOMY 18
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Chromosome Abnormalities |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
|
Cell Type
|
Fibroblast
|
|
Transformant
|
Untransformed
|
|
Sample Source
|
DNA from Fibroblast
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Karyotypic analysis after cell line submission to CCR
|
|
ISCN
|
47,XY,+18[25].arr[hg19] 18p11.32q23(11,542-78,015,057)x3
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| Passage Frozen |
1 |
| |
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
| |
| Cytogenetics |
Chromosome 18: ANEUPLOID Aneuploid Segment (+)18pter>18qter |
|
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 |
| |
| 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 |
| |
| 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 |
|
|