ArticleMolecular genetics & genomic medicine2020
Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.
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 7 papers.
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Who cites it
7 citing papers in PubMed, 8 citations in OpenAlex.
- Diffuse alveolar hemorrhage in a pediatric patient with cri du chat syndrome: a case report.Annals of medicine and surgery (2012) · 2026Article
- Article
- Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.Molecular syndromology · 2023Article
- Article
- 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
- Breakpoint delineation in 5p- patients leads to new insights about microcephaly and the typical high-pitched cry.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
13 authors at 2 institutions in 1 country.
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Abstract
backgroundCri du chat syndrome (CdCS) is a rare syndrome caused by a partial or complete deletion of the short arm of chromosome 5 (5p-). The main clinical features include a high-pitched cry, facial asymmetry, microcephaly, round face at birth, epicanthal folds, hypotonia, delayed growth and development.
methodsWe studied 14 Brazilian patients with CdCS using genomic array in order to better define the 5p breakpoints and recognize copy number variations (CNVs) that contribute to clinical manifestations associated with the syndrome.
resultsArray confirmed terminal deletions in 13 patients and an interstitial deletion in one patient. It was also possible to map the breakpoints and associate a genomic region of 4.7 Mb to the development of head circumference and cat-like cry. We also found other CNVs concomitant to the 5p deletion including a 9p duplication, a 17q deletion, and a 22q deletion in three different patients.
conclusionWith advancements of molecular cytogenomic methods in the last two decades, it was possible to evidence cryptic alterations and improve the genotype-phenotype correlation. In this work, we describe a new genomic region associated with microcephaly and cat-like cry and highlight the importance of precise delineation of 5p deletion breakpoints and detection of other CNVs in CdCS patients to improve genotype-phenotype correlation to perform a complete clinical and molecular diagnosis.
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