The prevalence of the defining features of primary ciliary dyskinesia within a cri du chat syndrome cohort
Sign Up to like & getrecommendations! Published in 2018 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.24159
Abstract: Primary ciliary dyskinesia (PCD) and cri du chat syndrome (CdCS) are distinct disorders that can co‐occur due to a common genetic locus on chromosome 5p. Chronic respiratory symptoms associated with PCD can occur in CdCS… read more here.
Keywords: cri chat; ciliary dyskinesia; chat syndrome; primary ciliary ... See more keywords
Myelodysplastic syndromes in a pediatric patient with Cri du Chat syndrome with a ring chromosome 5
Sign Up to like & getrecommendations! Published in 2020 at "International Journal of Hematology"
DOI: 10.1007/s12185-020-02909-7
Abstract: Few hematological complications have previously been reported in association with Cri du Chat syndrome (CdCS). A case of myelodysplastic syndromes (MDS) in a pediatric patient with CdCS is herein presented. A 17-year-old female with CdCS… read more here.
Keywords: myelodysplastic syndromes; chat syndrome; ring chromosome; cri chat ... See more keywords
Prenatal diagnosis of cri-du-chat syndrome by SNP array: report of twelve cases and review of the literature
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-019-0462-0
Abstract: BackgroundCri-du-chat syndrome (CdCS; OMIM#123450) is a classic contiguous gene syndrome caused by chromosome 5p terminal deletion (5p-), which characterized by a high-pitched cat-like cry, developmental delay, severe psychomotor, mental retardation, and dysmorphic features in infancy.… read more here.
Keywords: chat syndrome; diagnosis; snp array; cdcs ... See more keywords
Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Genetics and Molecular Biology"
DOI: 10.1590/1678-4685-gmb-2018-0173
Abstract: Abstract Cri-du-chat syndrome (CdCs) is one of the most common contiguous gene syndromes, with an incidence of 1:15,000 to 1:50,000 live births. To better understand the etiology of CdCs at the molecular level, we investigated… read more here.
Keywords: region 5p15; biology; cri chat; cdcs ... See more keywords
Prenatal Sonographic Features of Cri-du-Chat Syndrome: A Case Report and Analytical Literature Review
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DOI: 10.3390/diagnostics12020421
Abstract: Cri-du-Chat syndrome (CdCS) is a rare but serious genetic disorder. Most cases occur de novo, without specific risk factors as an indication of invasive prenatal diagnosis. Moreover, no specific ultrasound findings have been reported to… read more here.
Keywords: review; chat syndrome; analytical literature; cri chat ... See more keywords