2019
DOI: 10.1002/mgg3.957
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Breakpoint delineation in 5p‐ patients leads to new insights about microcephaly and the typical high‐pitched cry

Abstract: Background Cri 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. Methods We 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 asso… Show more

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Cited by 5 publications
(6 citation statements)
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“…The phenotypic variability of CdCS has been associated with the heterogeneity of the deletion size, position, and gene content at the short arm of chromosome 5. The deletions vary in size, but breakpoints have been mainly described within bands 5p15.2 or 5p15.3 [Chehimi et al, 2020].…”
Section: Discussionmentioning
confidence: 99%
“…The phenotypic variability of CdCS has been associated with the heterogeneity of the deletion size, position, and gene content at the short arm of chromosome 5. The deletions vary in size, but breakpoints have been mainly described within bands 5p15.2 or 5p15.3 [Chehimi et al, 2020].…”
Section: Discussionmentioning
confidence: 99%
“…During the A.B.C family meetings held from 2014 to 2018, we evaluated the voice of 63 consecutive Italian CdC patients; for all of them, the diagnosis of Cri du Chat syndrome was obtained by karyotype studies, showing a terminal deletion of the short arm of chromosome [5]. As array CGH is available only in a minority of cases, the ones with the most recent diagnoses, we did not attempt a correlation between clinical and molecular data.…”
Section: Methodsmentioning
confidence: 99%
“…Cortical regions work with the basal ganglia, thalamus and cerebellum in speech control [4]. A recent paper [5] identified a small region, 5p15.2, included in the 5p-deletions as related to a high-pitched voice in CdC patients, although the data are not fully conclusive.…”
Section: Introductionmentioning
confidence: 99%
“…Genomic data were collected from the literature where approximate breakpoints are known for 53 individuals with 9p deletion and duplication syndromes. 12 , 14 , 15 , 16 , 17 , 19 , 27 , 29 , 30 , 33 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 …”
Section: Methodsmentioning
confidence: 99%