ReviewThe journal of histochemistry and cytochemistry : official journal of the Histochemistry Society2012
Microdeletion and microduplication syndromes.
Review in The journal of histochemistry and cytochemistry : official journal of the Histochemistry Society, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 78 papers.
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Who cites it
78 citing papers in PubMed.
- Dissecting the genotype in syndromic intellectual disability using whole exome sequencing in addition to genome-wide copy number analysis.Human genetics · 2013Trial
- Integrating Long-Read Structural Variant Analysis with single-nucleus RNA-seq to Elucidate Gene Expression Effects in Disease.bioRxiv : the preprint server for biology · 2026Article
- Application of microdeletion and microduplication screening in preimplantation genetic testing: a case report.Journal of medical case reports · 2026Article
- Olfactory dysfunction and submicroscopic abnormalities: unveiling hidden pathologies.Frontiers in molecular neuroscience · 2026Review
- A retrospective analysis of 6942 amniocentesis cases.BMC pregnancy and childbirth · 2025Article
- Article
- Review
- Intrauterine phenotype, genetic analysis, and pregnancy follow-up of fetuses with the 16p12.2 microdeletion.Frontiers in genetics · 2025Article
- Review
- The Approach to a Child with Dysmorphic Features: What the Pediatrician Should Know.Children (Basel, Switzerland) · 2024Review
- Microduplication and Microdeletion Syndromes Diagnosed Prenatally Using Single Nucleotide Polymorphism Array.Journal of personalized medicine · 2024Article
- Article
- Genetic analysis and prenatal diagnosis of a pedigree with developmental retardation due to paternal 8q/18q translocation.Clinical case reports · 2023Article
- Novel SETBP1 mutation in a chinese family with intellectual disability.BMC medical genomics · 2023Article
- Extended application of BACs-on-Beads technique in prenatal diagnosis.Archives of medical science : AMS · 2023Article
- Rare CNVs and Known Genes Linked to Macrocephaly: Review of Genomic Loci and Promising Candidate Genes.Genes · 2022Review
- A comprehensive list of human microdeletion and microduplication syndromes.BMC genomic data · 2022Article
- Molecular combing and its application in clinical settings.Molecular cytogenetics · 2022Review
- Non-Invasive Prenatal Testing in Germany.Diagnostics (Basel, Switzerland) · 2022Review
- Review
18 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The widespread use of whole genome analysis based on array comparative genomic hybridization in diagnostics and research has led to a continuously growing number of microdeletion and microduplication syndromes (MMSs) connected to certain phenotypes. These MMSs also include increasing instances in which the critical region can be reciprocally deleted or duplicated. This review catalogues the currently known MMSs and the corresponding critical regions including phenotypic consequences. Besides the pathogenic pathways leading to such rearrangements, the different detection methods and their limitations are discussed. Finally, the databases available for distinguishing between reported benign or pathogenic copy number alterations are highlighted. Overall, a review of MMSs that previously were also denoted "genomic disorders" or "contiguous gene syndromes" is given.
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Registered trials
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