 Chromosome Deletion
"Chromosome Deletion" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Actual loss of portion of a chromosome.
| Descriptor ID |
D002872
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| MeSH Number(s) |
C23.550.210.050.500.500 G05.365.590.029.530.175 G05.365.590.175.050.500.500 G05.365.590.762.180 G05.558.800.180 G05.700.131.500.500
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| Concept/Terms |
Partial Monosomy- Partial Monosomy
- Monosomies, Partial
- Partial Monosomies
- Monosomy, Partial
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Below are MeSH descriptors whose meaning is more general than "Chromosome Deletion".
Below are MeSH descriptors whose meaning is more specific than "Chromosome Deletion".
This graph shows the total number of publications written about "Chromosome Deletion" by people in this website by year, and whether "Chromosome Deletion" was a major or minor topic of these publications.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 2 | 0 | 2 | | 1997 | 3 | 0 | 3 | | 1998 | 1 | 0 | 1 | | 1999 | 2 | 0 | 2 | | 2000 | 3 | 0 | 3 | | 2001 | 0 | 2 | 2 | | 2005 | 2 | 0 | 2 | | 2006 | 2 | 1 | 3 | | 2007 | 4 | 0 | 4 | | 2008 | 2 | 3 | 5 | | 2009 | 3 | 3 | 6 | | 2010 | 5 | 1 | 6 | | 2011 | 1 | 0 | 1 | | 2013 | 1 | 3 | 4 | | 2014 | 0 | 1 | 1 | | 2015 | 3 | 1 | 4 | | 2016 | 0 | 1 | 1 | | 2017 | 0 | 3 | 3 | | 2018 | 2 | 1 | 3 | | 2020 | 1 | 1 | 2 | | 2021 | 2 | 4 | 6 | | 2023 | 0 | 2 | 2 | | 2024 | 0 | 1 | 1 | | 2025 | 2 | 0 | 2 |
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Below are the most recent publications written about "Chromosome Deletion" by people in Profiles.
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Tegtmeyer M, Liyanage D, Han Y, Hebert KB, Pei R, Way GP, Ryder PV, Hawes D, Tromans-Coia C, Cimini BA, Carpenter AE, Singh S, Nehme R. Combining phenomics with transcriptomics reveals cell-type-specific morphological and molecular signatures of the 22q11.2 deletion. Nat Commun. 2025 Jul 09; 16(1):6332.
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Jakubek YA, Ma X, Stilp AM, Yu F, Bacon J, Wong JW, Aguet F, Ardlie K, Arnett DK, Barnes K, Bis JC, Blackwell T, Becker LC, Boerwinkle E, Bowler RP, Budoff MJ, Carson AP, Chen J, Cho MH, Coresh J, Cox NJ, de Vries PS, DeMeo DL, Fardo DW, Fornage M, Guo X, Hall ME, Heard-Costa N, Hidalgo B, Irvin MR, Johnson AD, Jorgenson E, Kenny EE, Kessler MD, Levy D, Li Y, Lima JAC, Liu Y, Locke AE, Loos RJF, Machiela MJ, Mathias RA, Mitchell BD, Murabito JM, Mychaleckyj JC, North KE, Orchard P, Parker SCJ, Pershad Y, Peyser PA, Pratte KA, Psaty BM, Raffield LM, Redline S, Rich SS, Rotter JI, Shah SJ, Smith JA, Smith AP, Smith A, Taub MA, Tiwari HK, Tracy R, Tuftin B, Bick AG, Sankaran VG, Reiner AP, Scheet P, Auer PL. Genomic and phenotypic correlates of mosaic loss of chromosome Y in blood. Am J Hum Genet. 2025 Feb 06; 112(2):276-290.
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Santucci K, Malik KE, Angione K, Bennink D, Gerk A, Mancini D, Stringfellow M, Dinkel T, Demarest S, Miele AS, Saenz M. Chromosome 8p Syndromes Clinical Presentation and Management Guidelines. Clin Genet. 2025 Feb; 107(2):169-178.
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Wang LA, Larson A, Abbott JK. The Immune Status of Patients with 16p11.2 Deletion Syndrome. J Clin Immunol. 2023 11; 43(8):1792-1795.
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Kaneko S, Shimbo A, Irabu H, Yamamoto T, Shimizu M. Inverted-duplication-deletion of chromosome 10q identified in a patient with systemic lupus erythematosus. Pediatr Int. 2023 01; 65(1):e15396.
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Irmscher S, Zipfel SLH, Halder LD, Ivanov L, Gonzalez-Delgado A, Waldeyer C, Seiffert M, Brunner FJ, von der Heide M, L?schmann I, Wulf S, Czamara D, Papac-Milicevic N, Strau? O, Lorkowski S, Reichenspurner H, Holers MV, Banda NK, Zeller T, Binder EB, Binder CJ, Wiech T, Zipfel PF, Skerka C. Factor H-related protein 1 (FHR-1) is associated with atherosclerotic cardiovascular disease. Sci Rep. 2021 11 18; 11(1):22511.
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Jensen M, Tyryshkina A, Pizzo L, Smolen C, Das M, Huber E, Krishnan A, Girirajan S. Combinatorial patterns of gene expression changes contribute to variable expressivity of the developmental delay-associated 16p12.1 deletion. Genome Med. 2021 10 18; 13(1):163.
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Deng MY, Sturm D, Pfaff E, Sill M, Stichel D, Balasubramanian GP, Tippelt S, Kramm C, Donson AM, Green AL, Jones C, Schittenhelm J, Ebinger M, Schuhmann MU, Jones BC, van Tilburg CM, Wittmann A, Golanov A, Ryzhova M, Ecker J, Milde T, Witt O, Sahm F, Reuss D, Sumerauer D, Zamecnik J, Korshunov A, von Deimling A, Pfister SM, Jones DTW. Radiation-induced gliomas represent H3-/IDH-wild type pediatric gliomas with recurrent PDGFRA amplification and loss of CDKN2A/B. Nat Commun. 2021 09 20; 12(1):5530.
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Pizzo L, Lasser M, Yusuff T, Jensen M, Ingraham P, Huber E, Singh MD, Monahan C, Iyer J, Desai I, Karthikeyan S, Gould DJ, Yennawar S, Weiner AT, Pounraja VK, Krishnan A, Rolls MM, Lowery LA, Girirajan S. Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis. PLoS Genet. 2021 04; 17(4):e1009112.
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Radio FC, Pang K, Ciolfi A, Levy MA, Hern?ndez-Garc?a A, Pedace L, Pantaleoni F, Liu Z, de Boer E, Jackson A, Bruselles A, McConkey H, Stellacci E, Lo Cicero S, Motta M, Carrozzo R, Dentici ML, McWalter K, Desai M, Monaghan KG, Telegrafi A, Philippe C, Vitobello A, Au M, Grand K, Sanchez-Lara PA, Baez J, Lindstrom K, Kulch P, Sebastian J, Madan-Khetarpal S, Roadhouse C, MacKenzie JJ, Monteleone B, Saunders CJ, Jean Cuevas JK, Cross L, Zhou D, Hartley T, Sawyer SL, Monteiro FP, Secches TV, Kok F, Schultz-Rogers LE, Macke EL, Morava E, Klee EW, Kemppainen J, Iascone M, Selicorni A, Tenconi R, Amor DJ, Pais L, Gallacher L, Turnpenny PD, Stals K, Ellard S, Cabet S, Lesca G, Pascal J, Steindl K, Ravid S, Weiss K, Castle AMR, Carter MT, Kalsner L, de Vries BBA, van Bon BW, Wevers MR, Pfundt R, Stegmann APA, Kerr B, Kingston HM, Chandler KE, Sheehan W, Elias AF, Shinde DN, Towne MC, Robin NH, Goodloe D, Vanderver A, Sherbini O, Bluske K, Hagelstrom RT, Zanus C, Faletra F, Musante L, Kurtz-Nelson EC, Earl RK, Anderlid BM, Morin G, van Slegtenhorst M, Diderich KEM, Brooks AS, Gribnau J, Boers RG, Finestra TR, Carter LB, Rauch A, Gasparini P, Boycott KM, Barakat TS, Graham JM, Faivre L, Banka S, Wang T, Eichler EE, Priolo M, Dallapiccola B, Vissers LELM, Sadikovic B, Scott DA, Holder JL, Tartaglia M. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 03 04; 108(3):502-516.
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