 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 |
|---|
| 1980 | 0 | 3 | 3 | | 1981 | 1 | 2 | 3 | | 1982 | 0 | 2 | 2 | | 1983 | 2 | 1 | 3 | | 1984 | 1 | 2 | 3 | | 1985 | 0 | 2 | 2 | | 1986 | 0 | 3 | 3 | | 1987 | 0 | 2 | 2 | | 1988 | 0 | 3 | 3 | | 1989 | 0 | 3 | 3 | | 1990 | 2 | 1 | 3 | | 1991 | 0 | 2 | 2 | | 1992 | 1 | 2 | 3 | | 1993 | 1 | 0 | 1 | | 1994 | 0 | 4 | 4 | | 1995 | 1 | 5 | 6 | | 1996 | 1 | 6 | 7 | | 1997 | 1 | 2 | 3 | | 1998 | 0 | 4 | 4 | | 1999 | 1 | 1 | 2 | | 2001 | 1 | 0 | 1 | | 2006 | 1 | 1 | 2 | | 2007 | 1 | 0 | 1 | | 2008 | 1 | 2 | 3 | | 2009 | 1 | 0 | 1 | | 2010 | 1 | 0 | 1 | | 2011 | 2 | 0 | 2 | | 2012 | 2 | 0 | 2 | | 2015 | 1 | 0 | 1 | | 2016 | 0 | 1 | 1 | | 2018 | 2 | 0 | 2 | | 2019 | 0 | 1 | 1 |
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Below are the most recent publications written about "Chromosome Disorders" by people in Profiles.
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Samogy-Costa CI, Varella-Branco E, Monfardini F, Ferraz H, Fock RA, Barbosa RHA, Pessoa ALS, Perez ABA, Lourenço N, Vibranovski M, Krepischi A, Rosenberg C, Passos-Bueno MR. A Brazilian cohort of individuals with Phelan-McDermid syndrome: genotype-phenotype correlation and identification of an atypical case. J Neurodev Disord. 2019 07 18; 11(1):13.
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Murcia Pienkowski V, Kucharczyk M, Mlynek M, Szczaluba K, Rydzanicz M, Poszewiecka B, Skórka A, Sykulski M, Biernacka A, Koppolu AA, Posmyk R, Walczak A, Kosinska J, Krajewski P, Castaneda J, Obersztyn E, Jurkiewicz E, Smigiel R, Gambin A, Chrzanowska K, Krajewska-Walasek M, Ploski R. Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders. J Med Genet. 2019 02; 56(2):104-112.
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Lewis AH, Chugh A, Sobotka SA. Behavioral Outbursts in a Child with a Deletion Syndrome, Generalized Epilepsy, Global Developmental Delay, and Failure to Thrive. Pediatr Ann. 2018 Mar 01; 47(3):e130-e134.
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Byers HM, Adam MP, LaCroix A, Leary SE, Cole B, Dobyns WB, Mefford HC. Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22. . 2017 Jan; 173(1):245-249.
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Yano S, McNamara M, Halbach S, Waggoner D. 4q21 microdeletion in a patient with epilepsy and brain malformations. . 2015 Jun; 167(6):1409-13.
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Meadow W. Editor's comments. Acta Paediatr. 2013 Dec; 102(12):1129.
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Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E, Chung B, Toutain A, Weksberg R, Millen KJ, Barkovich AJ, Dobyns WB. Cerebellar and posterior fossa malformations in patients with autism-associated chromosome 22q13 terminal deletion. . 2013 Jan; 161A(1):131-6.
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Chong JX, Ouwenga R, Anderson RL, Waggoner DJ, Ober C. A population-based study of autosomal-recessive disease-causing mutations in a founder population. Am J Hum Genet. 2012 Oct 05; 91(4):608-20.
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Deak KL, Horn SR, Rehder CW. The evolving picture of microdeletion/microduplication syndromes in the age of microarray analysis: variable expressivity and genomic complexity. Clin Lab Med. 2011 Dec; 31(4):543-64, viii.
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Silasi M, Rana S, Powe C, Cohen B, Lim KH, Zsengellér ZK, Karumanchi SA, Stillman IE. Placental expression of angiogenic factors in Trisomy 13. Am J Obstet Gynecol. 2011 Jun; 204(6):546.e1-4.
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