Description:
CHROMOSOME DELETION
COPY NUMBER VARIATION (CNV) REFERENCE PANEL
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Chromosome Abnormalities
dbGaP |
| 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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46,XX,del(10)(p13)[20]
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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 Chromosome Analysis |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Chromosome Analysis |
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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 10 |
Mathew et al (Ann Hum Genet 54:121-129,1990) analyzed DNA from this 46,XX,del(10) cell line in Southern blot hybridization experiments using a number of chromosome 10 markers to determine the copy numbers present. The following results were obtained: D10S17 (pter>p13) - 1 copy, D10S28 (pter>p13) - 1 copy, VIM (p13>p12) - 2 copies, and D10S34 (p12>p11) - 2 copies. |
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| GENE MAPPING & DOSAGE STUDIES - CHROMOSOME 10 |
Mathew et al (Ann Hum Genet 54:121-129,1990) analyzed DNA from this 46,XX,del(10) cell line in Southern blot hybridization experiments using a number of chromosome 10 markers to determine the copy numbers present. The following results were obtained: D10S17 (pter>p13) - 1 copy, D10S28 (pter>p13) - 1 copy, VIM (p13>p12) - 2 copies, and D10S34 (p12>p11) - 2 copies. |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| CNVPANEL |
For more information click here:CNVPANEL01 |
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| Cytogenetics |
Chromosome 10: DELETION Aneuploid Segment (-)10pter>10p13 |
| Remarks |
Developmental delay and dysmorphic features; parents both have normal karyotypes; see GM06937 Fibroblast; gene copy numbers: D10S17-1, D10S28-1, VIM-2, and D10S34-2 |
| Tan VJ, Liu T, Arifin Z, Pak B, Tan ASC, Wong S, Khor CC, Yang H, Lee CG, Huang Z, Choolani MA, Chong SS, Third-Generation Single-Molecule Sequencing for Preimplantation Genetic Testing of Aneuploidy and Segmental Imbalances Clinical chemistry: 2022 |
| PubMed ID: 37477572 |
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| Walters-Sen L, Neitzel D, Bristow SL, Mitchell A, Alouf CA, Aradhya S, Faulkner N, Experience analysing over 190,000 embryo trophectoderm biopsies using a novel FAST-SeqS preimplantation genetic testing assay Reproductive biomedicine online44:228-238 2021 |
| PubMed ID: 35039224 |
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| Tang Z, Berlin DS, Toji L, Toruner GA, Beiswanger C, Kulkarni S, Martin CL, Emanuel BS, Christman M, Gerry NP, A dynamic database of microarray-characterized cell lines with various cytogenetic and genomic backgrounds G3 (Bethesda, Md)3:1143-9 2013 |
| PubMed ID: 23665875 |
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| Schuffenhauer S, Lichtner P, Peykar-Derakhshandeh P, Murken J, Haas OA, Back E, Wolff G, Zabel B, Barisic I, Rauch A, Borochowitz Z, Dallapiccola B, Ross M, Meitinger T, Deletion mapping on chromosome 10p and definition of a critical region for the second DiGeorge syndrome locus (DGS2). Eur J Hum Genet6:213-25 1998 |
| PubMed ID: 9781025 |
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| Daw SC, Taylor C, Kraman M, Call K, Mao J, Schuffenhauer S, Meitinger T, Lipson T, Goodship J, Scambler P, A common region of 10p deleted in DiGeorge and velocardiofacial syndromes. Nat Genet13:458-60 1996 |
| PubMed ID: 8696341 |
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| Mathew CG, Wakeling W, Jones E, Easton D, Fisher R, Strong C, Smith B, Chin K, Little P, Nakamura Y, et al, Regional localization of polymorphic markers on chromosome 10 by physical and genetic mapping. Ann Hum Genet54 ( Pt 2):121-9 1990 |
| PubMed ID: 1974407 |
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