"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,
click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1994 | 0 | 5 | 5 |
| 1995 | 0 | 10 | 10 |
| 1996 | 5 | 4 | 9 |
| 1997 | 3 | 7 | 10 |
| 1998 | 3 | 7 | 10 |
| 1999 | 1 | 4 | 5 |
| 2001 | 2 | 3 | 5 |
| 2003 | 3 | 1 | 4 |
| 2004 | 3 | 0 | 3 |
| 2005 | 4 | 0 | 4 |
| 2006 | 1 | 1 | 2 |
| 2007 | 2 | 1 | 3 |
| 2008 | 2 | 0 | 2 |
| 2009 | 1 | 2 | 3 |
| 2010 | 4 | 4 | 8 |
| 2011 | 4 | 6 | 10 |
| 2012 | 7 | 4 | 11 |
| 2013 | 7 | 3 | 10 |
| 2014 | 3 | 1 | 4 |
| 2015 | 6 | 0 | 6 |
| 2016 | 6 | 2 | 8 |
| 2017 | 8 | 0 | 8 |
| 2018 | 7 | 0 | 7 |
| 2019 | 6 | 3 | 9 |
| 2020 | 4 | 0 | 4 |
| 2021 | 4 | 0 | 4 |
| 2023 | 2 | 0 | 2 |
| 2024 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Chromosome Disorders" by people in Profiles.
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Clinical, genetic, and cognitive correlates of seizure occurrences in Phelan-McDermid syndrome. J Neurodev Disord. 2024 May 10; 16(1):25.
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A familial deletion of 10p12.1 associated with thrombocytopenia. Am J Med Genet A. 2024 01; 194(1):77-81.
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Constitutional balanced translocations involving SMARCB1: A rare cause of rhabdoid tumor predisposition syndrome. Genes Chromosomes Cancer. 2024 01; 63(1):e23195.
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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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Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research. Pediatr Res. 2022 08; 92(2):373-377.
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Contribution of uniparental disomy in a clinical trio exome cohort of 2675 patients. Mol Genet Genomic Med. 2021 11; 9(11):e1792.
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RERE deficiency contributes to the development of orofacial clefts in humans and mice. Hum Mol Genet. 2021 05 12; 30(7):595-602.
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Health-Related Quality of Life in Pediatric Patients with Syndromic Autism and their Caregivers. J Autism Dev Disord. 2022 Mar; 52(3):1334-1345.
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Chances and Challenges of New Genetic Screening Technologies (NIPT) in Prenatal Medicine from a Clinical Perspective: A Narrative Review. Genes (Basel). 2021 03 29; 12(4).
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 03 04; 108(3):502-516.