ArticleJournal of medical genetics2001
Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.
Article in Journal of medical genetics, 2001. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 205 citations in OpenAlex.
- Behavioral Abnormalities, Cognitive Impairments, Synaptic Deficits, and Gene Replacement Therapy in a CRISPR Engineered Rat Model of 5p15.2 Deletion Associated With Cri du Chat Syndrome.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Article
- 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
- Article
- Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.Genes · 2023Article
- ConanVarvar: a versatile tool for the detection of large syndromic copy number variation from whole-genome sequencing data.BMC bioinformatics · 2023Article
- Loss ofFrontiers in neuroscience · 2023Article
- 5p deletion with congenital diaphragmatic hernia: a case report.Journal of medical case reports · 2022Article
- Cri du chat syndrome patients have DNA methylation changes in genes linked to symptoms of the disease.Clinical epigenetics · 2022Article
- Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review.Diagnostics (Basel, Switzerland) · 2022Article
- Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome.Clinics (Sao Paulo, Brazil) · 2022Article
- Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.Frontiers in genetics · 2021Article
- Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.Molecular genetics & genomic 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
- Candidate Genes Associated With Neurological Findings in a Patient With Trisomy 4p16.3 and Monosomy 5p15.2.Frontiers in genetics · 2020Article
- Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature.Molecular cytogenetics · 2019Article
- 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
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
The majority of deletions of the short arm of chromosome 5 are associated with cri du chat syndrome (CdCS) and patients show phenotypic and cytogenetic variability. To perform a genotype-phenotype correlation, 80 patients from the Italian CdCS Register were analysed. Molecular cytogenetic analysis showed that 62 patients (77.50%) had a 5p terminal deletion characterised by breakpoint intervals ranging from p13 (D5S763) to p15.2 (D5S18). Seven patients (8.75%) had a 5p interstitial deletion, four (5%) a de novo translocation, and three (3.75%) a familial translocation. Of the remaining four patients, three (3.75%) had de novo 5p anomalies involving two rearranged cell lines and one (1.25%) had a 5p deletion originating from a paternal inversion. The origin of the deleted chromosome 5 was paternal in 55 out of 61 patients (90.2%). Genotype-phenotype correlation in 62 patients with terminal deletions highlighted a progressive severity of clinical manifestation and psychomotor retardation related to the size of the deletion. The analysis of seven patients with interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731. Furthermore, this study lends support to the hypothesis of a separate region in p15.3 for the speech delay.
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