ArticleThe application of clinical genetics2010
Disorders caused by chromosome abnormalities.
Article in The application of clinical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 90 citations in OpenAlex.
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- Changes in sequencing technology used for preimplantation genetic testing for aneuploidy.Journal of assisted reproduction and genetics · 2025Review
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- ChromosomeNet: Deep Learning-Based Automated Chromosome Detection in Metaphase Cell Images.IEEE open journal of engineering in medicine and biology · 2025Article
- Learning genotype-phenotype associations from gaps in multi-species sequence alignments.Briefings in bioinformatics · 2024Article
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- A Cytogenetic Study of Turkish Children with Global Developmental Delay.Journal of pediatric genetics · 2024Article
- Evaluation of the probable synergistic toxicity of selected potentiated antiretroviral and antibiotics on some aquatic biomarker organisms.Environmental monitoring and assessment · 2023Article
- An Open Dataset of Annotated Metaphase Cell Images for Chromosome Identification.Scientific data · 2023Article
- Reported congenital malformations after exposure to non-tumour necrosis factor inhibitor biologics: A retrospective comparative study in EudraVigilance.British journal of clinical pharmacology · 2022Article
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- Candidate genes for infertility: an in-silico study based on cytogenetic analysis.BMC medical genomics · 2022Article
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- BDdb: a comprehensive platform for exploration and utilization of birth defect multi-omics data.BMC medical genomics · 2021Article
- Congenital anomalies in Santa Catarina: case distribution and trends in 2010-2018.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2021Article
- Reproductive toxicity assessment of Olusosun municipal landfill leachate in Mus musculus using abnormal sperm morphology and dominant lethal mutation assays.Environmental analysis, health and toxicology · 2020Article
- Review
- Strategies for whole-exome sequencing analysis in a case series study of familial male infertility.International journal of reproductive biomedicine · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Many human genetic disorders result from unbalanced chromosome abnormalities, in which there is a net gain or loss of genetic material. Such imbalances often disrupt large numbers of dosage-sensitive, developmentally important genes and result in specific and complex phenotypes. Alternately, some chromosomal syndromes may be caused by a deletion or duplication of a single gene with pleiotropic effects. Traditionally, chromosome abnormalities were identified by visual inspection of the chromosomes under a microscope. The use of molecular cytogenetic technologies, such as fluorescence in situ hybridization and microarrays, has allowed for the identification of cryptic or submicroscopic imbalances, which are not visible under the light microscope. Microarrays have allowed for the identification of numerous new syndromes through a genotype-first approach in which patients with the same or overlapping genomic alterations are identified and then the phenotypes are described. Because many chromosomal alterations are large and encompass numerous genes, the ascertainment of individuals with overlapping deletions and varying clinical features may allow researchers to narrow the region in which to search for candidate genes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.