ReviewAmerican journal of medical genetics. Part C, Seminars in medical genetics2015
5p deletions: Current knowledge and future directions.
Review in American journal of medical genetics. Part C, Seminars in medical genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed.
- Genetic Analysis Strategy for Diagnosing Congenital Heart Disease.Molecular syndromology · 2026Article
- Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome.Journal of medical genetics · 2026Article
- Non-recurrent duplications on chromosome 4p16.1 involving cis-regulatory elements affecting neural crest development in patients with isolated bilateral microtia.Human genetics · 2025Article
- Epidemiological Surveillance of Genetically Determined Microcephaly in Latin America: A Narrative Review.Epidemiologia (Basel, Switzerland) · 2025Review
- Article
- Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.Frontiers in genetics · 2024Article
- Analysis of potential copy-number variations and genes associated with first-trimester missed abortion.Heliyon · 2023Article
- Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.Molecular syndromology · 2023Article
- Extended application of BACs-on-Beads technique in prenatal diagnosis.Archives of medical science : AMS · 2023Article
- Neonatal Cri du chat syndrome with atypical facial appearance: A case report.World journal of clinical cases · 2022Article
- Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease.Clinical epigenetics · 2022Article
- Detection of copy number variants and genes by chromosomal microarray in an Emirati neurodevelopmental disorders cohort.Neurogenetics · 2022Article
- Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome.Clinics (Sao Paulo, Brazil) · 2022Article
- Factors Surrounding the Healthcare Transition From Pediatric to Adult Care in 5p- Syndrome: A Survey Among Healthcare Professionals.Frontiers in pediatrics · 2022Article
- Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes.Frontiers in medicine · 2022Article
- Genetic developmental disability diagnosed in adulthood: a case report.Journal of medical case reports · 2021Article
- Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.Frontiers in genetics · 2021Article
- Chromosomal Microarray Analysis Has a Poor Diagnostic Yield in Children with Developmental Delay/Intellectual Disability When Concurrent Cerebellar Anomalies Are Present.Cerebellum (London, England) · 2020Article
- Genetic Basis of Human Congenital Heart Disease.Cold Spring Harbor perspectives in biology · 2020Article
- Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.Molecular genetics & genomic medicine · 2020Article
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6 authors.
Funding
Abstract
Disorders resulting from 5p deletions (5p-) were first recognized by Lejeune et al. in 1963 [Lejeune et al. (1963); C R Hebd Seances Acad Sci 257:3098-3102]. 5p- is caused by partial or total deletion of the short arm of chromosome 5. The most recognizable phenotype is characterized by a high-pitched cry, dysmorphic features, poor growth, and developmental delay. This report reviews 5p- disorders and their molecular basis. Hemizygosity for genes located within this region have been implicated in contributing to the phenotype. A review of the genes on 5p which may be dosage sensitive is summarized. Because of the growing knowledge of these specific genes, future directions to explore potential targeted therapies for individuals with 5p- are discussed. © 2015 Wiley Periodicals, Inc.
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