 Chromosome Disorders
"Chromosome Disorders" 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.
Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429)
| Descriptor ID |
D025063
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| MeSH Number(s) |
C16.131.260 C16.320.180
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| Concept/Terms |
Chromosome Disorders- Chromosome Disorders
- Chromosome Disorder
- Disorder, Chromosome
- Disorders, Chromosome
- Chromosome Abnormality Disorders
- Chromosome Abnormality Disorder
- Disorder, Chromosome Abnormality
- Chromosomal Disorders
- Chromosomal Disorder
- Disorder, Chromosomal
- Disorders, Chromosomal
Autosomal Chromosome Disorders- Autosomal Chromosome Disorders
- Autosomal Chromosome Disorder
- Chromosome Disorder, Autosomal
- Chromosome Disorders, Autosomal
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Below are MeSH descriptors whose meaning is more general than "Chromosome Disorders".
Below are MeSH descriptors whose meaning is more specific than "Chromosome Disorders".
This graph shows the total number of publications written about "Chromosome Disorders" by people in this website by year, and whether "Chromosome Disorders" 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 |
|---|
| 1996 | 0 | 1 | 1 | | 1997 | 0 | 2 | 2 | | 1999 | 0 | 2 | 2 | | 2005 | 0 | 1 | 1 | | 2006 | 1 | 0 | 1 | | 2007 | 0 | 1 | 1 | | 2008 | 2 | 1 | 3 | | 2011 | 1 | 1 | 2 | | 2013 | 1 | 1 | 2 | | 2014 | 3 | 0 | 3 | | 2017 | 1 | 0 | 1 | | 2019 | 1 | 0 | 1 | | 2021 | 3 | 0 | 3 | | 2023 | 1 | 0 | 1 | | 2024 | 2 | 0 | 2 | | 2026 | 1 | 1 | 2 |
To return to the timeline, click here.
Below are the most recent publications written about "Chromosome Disorders" by people in Profiles.
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Kim BJ, Hernández-García A, Curtis DL, Thompson O, Champaigne N, Priolo M, Radio FC, Tartaglia M, Gucsavas-Calikoglu M, Shiloh-Malawsky Y, Perilla-Young Y, Josephi-Taylor S, Bournazos AM, Cooper ST, van Gassen K, van den Boogaard MJ, Ozekin YH, Bates EA, Kongchan N, Hsu CW, Scott DA. SPEN deficiency contributes to the development of orofacial clefts in humans and mice. Hum Mol Genet. 2026 Jul 15; 35(15).
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SanInocencio C, Demarest S, Weitzman S, Thomas H, Chandran I, DeWoody Y. Development of a patient-centered conceptual disease model in Ring 14 syndrome: a patient-centered model of lived experience. Qual Life Res. 2026 Jan 14; 35(2):47.
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Levy T, Holder JL, Horrigan JP, Snape MF, McMorn A, Layton C, Silver H, Friedman K, Grosman H, Underwood S, Halpern D, Zweifach J, Siper PM, Kolevzon A. An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome. HGG Adv. 2025 Apr 10; 6(2):100393.
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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 02; 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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Guillory SB, Baskett VZ, Grosman HE, McLaughlin CS, Isenstein EL, Wilkinson E, Weissman J, Britvan B, Trelles MP, Halpern DB, Buxbaum JD, Siper PM, Wang AT, Kolevzon A, Foss-Feig JH. Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study. J Neurodev Disord. 2021 12 04; 13(1):58.
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Radio FC, Pang K, Ciolfi A, Levy MA, Hernández-García 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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Mostovoy Y, Yilmaz F, Chow SK, Chu C, Lin C, Geiger EA, Meeks NJL, Chatfield KC, Coughlin CR, Surti U, Kwok PY, Shaikh TH. Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation. Genetics. 2021 02 09; 217(2).
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Puranik CP, Katechia B. Oral and dental findings in emanuel syndrome. Int J Paediatr Dent. 2019 Sep; 29(5):677-682.
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Bassett AS, Lowther C, Merico D, Costain G, Chow EWC, van Amelsvoort T, McDonald-McGinn D, Gur RE, Swillen A, Van den Bree M, Murphy K, Gothelf D, Bearden CE, Eliez S, Kates W, Philip N, Sashi V, Campbell L, Vorstman J, Cubells J, Repetto GM, Simon T, Boot E, Heung T, Evers R, Vingerhoets C, van Duin E, Zackai E, Vergaelen E, Devriendt K, Vermeesch JR, Owen M, Murphy C, Michaelovosky E, Kushan L, Schneider M, Fremont W, Busa T, Hooper S, McCabe K, Duijff S, Isaev K, Pellecchia G, Wei J, Gazzellone MJ, Scherer SW, Emanuel BS, Guo T, Morrow BE, Marshall CR. Rare Genome-Wide Copy Number Variation and Expression of Schizophrenia in 22q11.2 Deletion Syndrome. Am J Psychiatry. 2017 11 01; 174(11):1054-1063.
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