"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
|
| 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".
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,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 0 | 1 | 1 |
| 2008 | 1 | 0 | 1 |
| 2010 | 0 | 1 | 1 |
| 2011 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2016 | 1 | 0 | 1 |
| 2017 | 1 | 0 | 1 |
| 2018 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Chromosome Disorders" by people in Profiles.
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Molecular characterization of temple syndrome families with 14q32 epimutations. Eur J Med Genet. 2020 Dec; 63(12):104077.
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Dose response of the 16p11.2 distal copy number variant on intracranial volume and basal ganglia. Mol Psychiatry. 2020 03; 25(3):584-602.
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New insights into the imprinted MEG8-DMR in 14q32 and clinical and molecular description of novel patients with Temple syndrome. Eur J Hum Genet. 2017 08; 25(8):935-945.
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Novel microdeletions on chromosome 14q32.2 suggest a potential role for non-coding RNAs in Kagami-Ogata syndrome. Eur J Hum Genet. 2016 12; 24(12):1724-1729.
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Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies. Am J Hum Genet. 2012 Jul 13; 91(1):56-72.
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Five patients with novel overlapping interstitial deletions in 8q22.2q22.3. Am J Med Genet A. 2011 Aug; 155A(8):1857-64.
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Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspots. Hum Genet. 2011 Feb; 129(2):141-8.
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A large duplication in LIPH underlies autosomal recessive hypotrichosis simplex in four Middle Eastern families. Arch Dermatol Res. 2009 Jun; 301(5):391-3.
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Rapid synthesis of hybrid RNA molecules associated with leukemia-specific chromosomal translocations. Leukemia. 1995 Apr; 9(4):719-22.
MeSH information
