"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 |
|---|
| 2017 | 1 | 0 | 1 |
| 2018 | 2 | 0 | 2 |
| 2019 | 1 | 0 | 1 |
| 2020 | 2 | 0 | 2 |
| 2021 | 2 | 0 | 2 |
| 2022 | 1 | 0 | 1 |
| 2023 | 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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Updated consensus guidelines on the management of Phelan-McDermid syndrome. Am J Med Genet A. 2023 08; 191(8):2015-2044.
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Strong evidence for genotype-phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium. Hum Mol Genet. 2022 02 21; 31(4):625-637.
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Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome. J Neurodev Disord. 2021 11 05; 13(1):53.
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Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome. Mol Autism. 2021 04 28; 12(1):29.
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Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome. Autism Res. 2020 08; 13(8):1383-1396.
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Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome. Pediatr Neurol. 2020 05; 106:24-31.
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Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature. Mol Autism. 2019; 10:50.
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Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome. Pediatr Neurol. 2019 01; 90:37-43.
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Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15). Acta Neurol Scand. 2018 Jun; 137(6):575-581.
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Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome. Clin Neuropsychol. 2018 Aug - Oct; 32(7):1226-1255.