"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)
- 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.
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|Year||Major Topic||Minor Topic||Total|
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Below are the most recent publications written about "Chromosome Disorders" by people in Profiles.
Orgo-Seq integrates single-cell and bulk transcriptomic data to identify cell type specific-driver genes associated with autism spectrum disorder. Nat Commun. 2022 06 10; 13(1):3243.
Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes. Genome Med. 2021 10 29; 13(1):172.
Inherited Thrombocytopenia Caused by Germline ANKRD26 Mutation Should Be Considered in Young Patients With Suspected Myelodysplastic Syndrome. J Investig Med High Impact Case Rep. 2020 Jan-Dec; 8:2324709620938941.
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.
Miscarriage chromosome testing: Indications, benefits and methodologies. Semin Perinatol. 2019 03; 43(2):101-104.
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.
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.
Description of a new oncogenic mechanism for atypical teratoid rhabdoid tumors in patients with ring chromosome 22. Am J Med Genet A. 2017 Jan; 173(1):245-249.
4q21 microdeletion in a patient with epilepsy and brain malformations. Am J Med Genet A. 2015 Jun; 167(6):1409-13.
Editor's comments. Acta Paediatr. 2013 Dec; 102(12):1129.