ArticleMolecular genetics & genomic medicine2020
Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 11 citations in OpenAlex.
- The Impact of Fetal Growth Restriction on Myocardial Development from Fetal Life to Early Childhood: A Narrative Review.Children (Basel, Switzerland) · 2026Review
- Outcomes and Management of Pregnancies Screening Positive for Microdeletions 22q11.2, 15q11.2, 1p36, 4p, or 5p: A Retrospective Cohort Study.The application of clinical genetics · 2026Article
- Understanding the Genetic and Non-Genetic Interconnections in the Aetiology of Syndromic Congenital Heart Disease: An Updated Review: Part 2.Current cardiology reports · 2024Review
- Cognitive-Behavioral Profile in Pediatric Patients with Syndrome 5p-; Genotype-Phenotype Correlationships.Genes · 2023Article
- Highly precise breakpoint detection of chromosome balanced translocation in chronic myelogenous leukaemia: Case series.Journal of cellular and molecular medicine · 2022Article
- Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review.Diagnostics (Basel, Switzerland) · 2022Article
- Copy Number Variation Analysis of 5p Deletion Provides Accurate Prenatal Diagnosis and Reveals Candidate Pathogenic Genes.Frontiers in medicine · 2022Article
- Genetic Background of Fetal Growth Restriction.International journal of molecular sciences · 2021Review
- Whole genome sequencing reveals translocation breakpoints disrupting TP63 gene underlying split hand/foot malformation in a Chinese family.Molecular genetics & genomic medicine · 2021Article
- Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.Frontiers in genetics · 2021Article
- Whole Exome Sequencing Analysis in Fetal Skeletal Dysplasia Detected by Ultrasonography: An Analysis of 38 Cases.Frontiers in genetics · 2021Article
- Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.Molecular genetics & genomic medicine · 2020Article
Corrections and comments
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Authors and funding
11 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThis study aimed to define the molecular basis for 12 prenatal cases of Cri-du-chat syndrome (CdCS) and the potential genotyping-phenotyping association.
methodsKaryotyping and single nucleotide polymorphism array analyses for copy number variants were performed.
resultsNine cases had 5p terminal deletions and three had 5p interstitial deletions, and these cases had variable deletion sizes with partial overlapping. Phenotypically, besides intrauterine growth restriction (IUGR) and brain as well as heart abnormalities, hypospadias, and lung dysplasia were observed. Potential genetic causes for specific phenotypes in these cases were identified.
conclusionThis study defined the molecular bases for the patients of CdCS, which is important for genetic counseling for these families. The findings of present study expand the clinical features of CdCS in the fetal period, and provided important information for further refining the genotypic-phenotypic correlations for this syndrome.
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