Description:
TRISOMY 21
ANEUPLOID CHROMOSOME NUMBER - TRISOMY
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Chromosome Abnormalities |
| Class |
Other Disorders of Known Biochemistry |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
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Biopsy Source
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Peripheral vein
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Cell Type
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B-Lymphocyte
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Tissue Type
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Blood
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Transformant
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Epstein-Barr Virus
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Sample Source
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DNA from LCL
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Race
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White
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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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Karyotypic analysis after cell line submission to CCR
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ISCN
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47,XY,+21[24].arr(21)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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| 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 21: ANEUPLOID Aneuploid Segment (+)21pter>21qter |
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Chromosome 21: ANEUPLOID Trisomic Segment 21pter>21qter |
| Remarks |
Down syndrome phenotype; 47,XY,+21,fra (16)(q22) in leukocytes; no fra(16) observed in lymphoblast cultures; see GM04928A Fibroblast |
| Nikiforov D, Junping C, Cadenas J, Shukla V, Blanshard R, Pors SE, Kristensen SG, Macklon KT, Colmorn L, Ernst E, Bay-Bjørn AM, Ghezelayagh Z, Wakimoto Y, Grøndahl ML, Hoffmann E, Andersen CY, Improving the maturation rate of human oocytes collected ex vivo during the cryopreservation of ovarian tissue Journal of assisted reproduction and genetics: 2019 |
| PubMed ID: 32096110 |
| |
| Popovic M1, Dheedene A2, Christodoulou C1, Taelman J1, Dhaenens L1, Van Nieuwerburgh F3, Deforce D3, Van den Abbeel E1, De Sutter P1, Menten B2, Heindryckx B, Chromosomal mosaicism in human blastocysts: the ultimate challenge of preimplantation genetic testing Human Reproduction33:1342-1354 2018 |
| PubMed ID: 29796631 |
| |
| Spellman C, Ahmed MM, Dubach D, Gardiner KJ, Expression of trisomic proteins in Down syndrome model systems Gene512:219-25 2012 |
| PubMed ID: 23103828 |
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