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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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
MeSH Number(s)	C16.131.260 C16.320.180
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

Below are MeSH descriptors whose meaning is more general than "Chromosome Disorders".

Diseases [C]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Chromosome Disorders [C16.131.260]
Genetic Diseases, Inborn [C16.320]
Chromosome Disorders [C16.320.180]

Below are MeSH descriptors whose meaning is related to "Chromosome Disorders".

Below are MeSH descriptors whose meaning is more specific than "Chromosome Disorders".

publications

Timeline | Most Recent

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.

Bar chart showing 10 publications over 10 distinct years, with a maximum of 1 publications in 1998 and 2003 and 2006 and 2011 and 2012 and 2013 and 2014 and 2019 and 2020 and 2021

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1998	0	1	1
2003	1	0	1
2006	1	0	1
2011	1	0	1
2012	1	0	1
2013	1	0	1
2014	1	0	1
2019	0	1	1
2020	1	0	1
2021	0	1	1

Below are the most recent publications written about "Chromosome Disorders" by people in Profiles.

Siper PM, Rowe MA, Guillory SB, Rouhandeh AA, George-Jones JL, Tavassoli T, Lurie S, Zweifach J, Weissman J, Foss-Feig J, Halpern D, Trelles MP, Mulhern MS, Brittenham C, Gordon J, Zemon V, Buxbaum JD, Kolevzon A. Visual Evoked Potential Abnormalities in Phelan-McDermid Syndrome. J Am Acad Child Adolesc Psychiatry. 2022 04; 61(4):565-574.e1.

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Abe K, Dowsett L, Wada R, Hutchins K. A pediatric case of acute myeloid leukemia with KMT2A gene rearrangement t(10;11) and 16p11.2 microdeletion syndrome. Pediatr Blood Cancer. 2021 02; 68(2):e28764.

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Vijayan A, Singh M, Bansal D, Sreedharanunni S, Varma N, Sachdeva MUS, Bhatia P. iAMP21 screening by MLPA assay: Need for identification of characteristic pattern of amplification in addition to mean probe ratios to avoid false positivity. Int J Lab Hematol. 2020 02; 42(1):e30-e34.

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Boghossian NS, Hansen NI, Bell EF, Stoll BJ, Murray JC, Carey JC, Adams-Chapman I, Shankaran S, Walsh MC, Laptook AR, Faix RG, Newman NS, Hale EC, Das A, Wilson LD, Hensman AM, Grisby C, Collins MV, Vasil DM, Finkle J, Maffett D, Ball MB, Lacy CB, Bara R, Higgins RD. Mortality and morbidity of VLBW infants with trisomy 13 or trisomy 18. Pediatrics. 2014 Feb; 133(2):226-35.

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Ek WE, Levine DM, D'Amato M, Pedersen NL, Magnusson PK, Bresso F, Onstad LE, Schmidt PT, T?rnblom H, Nordenstedt H, Romero Y, Chow WH, Murray LJ, Gammon MD, Liu G, Bernstein L, Casson AG, Risch HA, Shaheen NJ, Bird NC, Reid BJ, Corley DA, Hardie LJ, Ye W, Wu AH, Zucchelli M, Spector TD, Hysi P, Vaughan TL, Whiteman DC, MacGregor S. Germline genetic contributions to risk for esophageal adenocarcinoma, Barrett's esophagus, and gastroesophageal reflux. J Natl Cancer Inst. 2013 Nov 20; 105(22):1711-8.

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Ramsey KW, Slavin TP, Graham G, Hirata GI, Balaraman V, Seaver LH. Monozygotic twins discordant for trisomy 13. J Perinatol. 2012 Apr; 32(4):306-8.

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Boghossian NS, Horbar JD, Carpenter JH, Murray JC, Bell EF. Major chromosomal anomalies among very low birth weight infants in the Vermont Oxford Network. J Pediatr. 2012 May; 160(5):774-780.e11.

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Orioli IM, Amar E, Bakker MK, Bermejo-S?nchez E, Bianchi F, Canfield MA, Clementi M, Correa A, Cs?ky-Szunyogh M, Feldkamp ML, Landau D, Leoncini E, Li Z, Lowry RB, Mastroiacovo P, Morgan M, Mutchinick OM, Rissmann A, Ritvanen A, Scarano G, Szabova E, Castilla EE. Cyclopia: an epidemiologic study in a large dataset from the International Clearinghouse of Birth Defects Surveillance and Research. Am J Med Genet C Semin Med Genet. 2011 Nov 15; 157C(4):344-57.

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Sobin C, Monk SH, Kiley-Brabeck K, Khuri J, Karayiorgou M. Neuromotor deficits in children with the 22q11 deletion syndrome. Mov Disord. 2006 Dec; 21(12):2082-9.

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Perez EE, Bokszczanin A, McDonald-McGinn D, Zackai EH, Sullivan KE. Safety of live viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). Pediatrics. 2003 Oct; 112(4):e325.

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