Cri-Du-Chat Syndrome: Clinical Profile and Chromosomal Microarray Analysis in Six Patients

Abstract

Cri-du-chat syndrome is a chromosomal disorder caused by a deletion of the short arm of chromosome 5. The disease severity, levels of intellectual and developmental delay, and patient prognosis have been related to the size and position of the deletion. Aiming to establish genotype-phenotype correlations, we applied array-CGH to evaluate six patients carrying cytogenetically detected deletions of the short arm of chromosome 5 who were followed at a genetics community service. The patients' cytogenetic and clinical profiles were reevaluated. A database review was performed to predict additional genes and regulatory elements responsible for the characteristic phenotypic and behavioral traits of this disorder. Array-CGH analysis allowed for delineation of the terminal deletions, which ranged in size from approximately 11.2 Mb to 28.6 Mb, with breakpoints from 5p15.2 to 5p13. An additional dup(8)(p23) (3.5 Mb), considered to be a benign copy number variation, was also observed in one patient. The correlation coefficient value (ρ = 0.13) calculated indicated the presence of a weak relationship between developmental delay and deletion size. Genetic background, family history, epigenetic factors, quantitative trait locus polymorphisms, and environmental factors may also affect patient phenotype and must be taken into account in genotype-phenotype correlations.

Prenatal sonographic diagnosis of isolated fetal ascites in cri‐du‐chat (5p‐) syndrome: A case report

“…Regarding fetal ascites, there are only two clinical cases described in the literature, in which this condition was found to be associated with CdCS. Nevertheless, these fetuses presented with hydrops and not with isolated ascites . To the best of our knowledge, our case is the first of a prenatally diagnosed CdCS with persistent isolated fetal ascites, which contributes to demonstrate the heterogeneity of this syndrome.…”

“…Few reports of prenatal diagnosis of CdCS have been published . Regarding fetal ascites, there are only two clinical cases described in the literature, in which this condition was found to be associated with CdCS.…”

Integrated analysis of the critical region 5p15.3–p15.2 associated with cri-du-chat syndrome

“…Clusters taken into consideration for further analysis were those containing major proteins related to CdCs and deleted in all patients according to Espitiro Santo (2016), namely those containing combinations of SLC6A3, SRD5A1, CCT5, ADCY2, TAS2R1, MED10, MTRR, SLC12A7, CEP72, NDUFS6, MARCH6, LPCAT1, NKD2, CTNND2, TERT, CLPTM1L, MRPL18, MRPL36, UBE2QL1, PAPD7, and TPPP (Figure 4). In addition, the TERT protein was a commonly clusterized protein, and all clusters containing TERT were selected.…”

Cri-du-chat syndrome mimics Silver-Russell syndrome depending on the size of the deletion: a case report

“…In the same cytogenetic band, there is another region which seems to be responsible for the facial dysmorphism [19, 22, 31]. Further, alterations in SEMA5A (5p15.31) [32] and CDH18 (5p14.3), CDH10 (5p14.2) and CDH9 (5p14.1) [33] also disrupt normal brain development; whereas autism spectrum and social communication disorders have been associated with the 5p14.1 cytogenetic band [34]. Like many other cases and as described above, our patient has intellectual disability, not having achieved the milestones for her age.…”