ReviewHuman genetics2008
Novel microdeletion syndromes detected by chromosome microarrays.
Review in Human genetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 papers, 1 of them a synthesis that pooled it.
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Who cites it
59 citing papers in PubMed, 1 synthesis or guideline pooled it, 259 citations in OpenAlex.
- American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.Genetics in medicine : official journal of the American College of Medical Genetics · 2011Guideline
- Prenatal Diagnosis and Postnatal Follow-Up of 19 Fetuses With 16p13.11 Microduplication in a Cohort of 12,038 Pregnancies From South Zhejiang.Molecular genetics & genomic medicine · 2026Article
- Congenital disorder of deglycosylation 2. Report of a novelMolecular genetics and metabolism reports · 2026Article
- Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns.Journal of clinical laboratory analysis · 2026Article
- Exploring the pathogenicity and genotype-phenotype correlation of 16p13.11 microduplication: a report of two cases.Translational pediatrics · 2026Article
- Retinoic Acid Induced 1 and Smith-Magenis Syndrome: From Genetics to Biology and Possible Therapeutic Strategies.International journal of molecular sciences · 2025Review
- The known structural variations in hearing loss and their diagnostic approaches: a comprehensive review.Molecular biology reports · 2025Review
- Variants inGenes · 2024Article
- A New Case of Rare Microdeletion 10q22.3q23 along with Mosaic Klinefelter Syndrome Associated with Facial Dysmorphic Finding, Atrial Ventricular Septal Defect, and Motor Retardation.Molecular syndromology · 2022Article
- Reduced anogenital distance, hematuria and left renal hypoplasia in a patient with 13q33.1-34 deletion: case report and literature review.BMC pediatrics · 2020Review
- Article
- Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome.Molecular syndromology · 2019Article
- A Multicentric Brazilian Investigative Study of Copy Number Variations in Patients with Congenital Anomalies and Intellectual Disability.Scientific reports · 2018Article
- 4q21.2q21.3 Duplication: Molecular and Neuropsychological Aspects.Current genomics · 2018Review
- Prematurity, ventricular septal defect and dysmorphisms are independent predictors of pathogenic copy number variants: a retrospective study on array-CGH results and phenotypical features of 293 children with neurodevelopmental disorders and/or multiple congenital anomalies.Italian journal of pediatrics · 2018Article
- 16p11.2 transcription factorProceedings of the National Academy of Sciences of the United States of America · 2018Article
- Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.Journal of applied genetics · 2017Review
- A New Case of the Rare 10q22.3q23.2 Microdeletion Flanked by Low-Copy Repeats 3/4.Molecular syndromology · 2017Article
- Microdeletion of chromosome 1q21.3 in fraternal twins is associated with mental retardation, microcephaly, and epilepsy.Intractable & rare diseases research · 2017Article
- Copy number variations and stroke.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2016Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Array comparative genomic hybridization (array CGH) has revolutionized the cytogenetic testing available for patients with learning disabilities who have "chromosomal" phenotypes with dysmorphic features and multiple anomalies. Screening large patient cohorts with mental retardation by array CGH has recently lead to the characterization of many novel microdeletion and microduplication syndromes, initially according to the shared cytogenetic aberrations, with secondary characterization of the corresponding phenotypes. This review provides a detailed clinical and molecular cytogenetic description of several of the most common of these aberrations. We have chosen to focus on patients in whom the cytogenetic abnormalities were principally described by array CGH, rather than by G-banded karyotyping or fluorescence in-situ hybridization. The syndromes that we have chosen include the 17q21.31 deletion and 17q21.31 duplication syndromes, 15q13.3 deletion syndrome, 16p11.2 deletion syndrome, 15q24 deletion syndrome, 1q41q42 deletion syndrome, 2p15p16.1 deletion syndrome and 9q22.3 deletion syndrome. In time, we hypothesize that at least some of these will become as clinically well characterized and recognizable to the clinician as the commoner microdeletion syndromes today. Although the full extent of the phenotypes is still evolving for many of these novel microdeletions, it is clear that array CGH has heralded an unparalleled era of discovery for clinical cytogenetics.
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