ArticleBioMed research international2016
Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients.
Article in BioMed research international, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 30 citations in OpenAlex.
- Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring.Frontiers in genetics · 2025Article
- Enhancing Communication and Swallowing Skills in Children with Cri Du Chat Syndrome: A Comprehensive Speech Therapy Guide.Children (Basel, Switzerland) · 2024Review
- From phenotype to phonotype: a comprehensive description of voice features of Cri du chat syndrome.European journal of pediatrics · 2024Article
- Article
- Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.Genes · 2023Article
- An uninformative NIPT as an early indicator of cri-du-chat due to a chromosomal 5;18 translocation-An atypical presentation of a rare cytogenetic phenomenon.Clinical case reports · 2023Article
- Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.Molecular syndromology · 2023Article
- Genetic Background of Fetal Growth Restriction.International journal of molecular sciences · 2021Review
- Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.Frontiers in genetics · 2021Article
- Applying high-throughput sequencing to identify and evaluate foetal chromosomal deletion and duplication.Journal of cellular and molecular medicine · 2020Article
- Three Offspring with Cri-du-Chat Syndrome from Phenotypically Normal Parents.Molecular syndromology · 2020Article
- Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.Molecular genetics & genomic medicine · 2020Article
- Integrated analysis of the critical region 5p15.3-p15.2 associated with cri-du-chat syndrome.Genetics and molecular biology · 2019Article
- Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report.BMC medical genomics · 2018Article
- Neoplasia in Cri du Chat Syndrome from Italian and German Databases.Case reports in genetics · 2017Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5. The disease severity, levels of intellectual and developmental delay, and patient prognosis have been related to the size and position of the deletion. Aiming to establish genotype-phenotype correlations, we applied array-CGH to evaluate six patients carrying cytogenetically detected deletions of the short arm of chromosome 5 who were followed at a genetics community service. The patients' cytogenetic and clinical profiles were reevaluated. A database review was performed to predict additional genes and regulatory elements responsible for the characteristic phenotypic and behavioral traits of this disorder. Array-CGH analysis allowed for delineation of the terminal deletions, which ranged in size from approximately 11.2 Mb to 28.6 Mb, with breakpoints from 5p15.2 to 5p13. An additional dup(8)(p23) (3.5 Mb), considered to be a benign copy number variation, was also observed in one patient. The correlation coefficient value (ρ = 0.13) calculated indicated the presence of a weak relationship between developmental delay and deletion size. Genetic background, family history, epigenetic factors, quantitative trait locus polymorphisms, and environmental factors may also affect patient phenotype and must be taken into account in genotype-phenotype correlations.
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