"Chromosome Deletion" 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.
Actual loss of portion of a chromosome.
| Descriptor ID |
D002872
|
| MeSH Number(s) |
C23.550.210.050.500.500 G05.365.590.029.530.175 G05.365.590.175.050.500.500 G05.365.590.762.180 G05.558.800.180 G05.700.131.500.500
|
| Concept/Terms |
Partial Monosomy- Partial Monosomy
- Monosomies, Partial
- Partial Monosomies
- Monosomy, Partial
|
Below are MeSH descriptors whose meaning is more general than "Chromosome Deletion".
Below are MeSH descriptors whose meaning is more specific than "Chromosome Deletion".
This graph shows the total number of publications written about "Chromosome Deletion" by people in this website by year, and whether "Chromosome Deletion" 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 |
|---|
| 2007 | 1 | 1 | 2 |
| 2008 | 0 | 1 | 1 |
| 2009 | 1 | 0 | 1 |
| 2012 | 1 | 0 | 1 |
| 2017 | 0 | 2 | 2 |
| 2018 | 0 | 1 | 1 |
| 2019 | 0 | 1 | 1 |
| 2020 | 0 | 2 | 2 |
| 2021 | 1 | 1 | 2 |
| 2022 | 0 | 1 | 1 |
| 2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Chromosome Deletion" 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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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.
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?-Catenin Is a Candidate Therapeutic Target for Myeloid Neoplasms with del(5q). Cancer Res. 2017 08 01; 77(15):4116-4126.