Publications by authors named "Gleyson F S Carvalho"
Article Synopsis
- * The variability in symptoms among patients may not only be due to genetic deletions but also involves other factors like DNA methylation that affect gene expression.
- * A study analyzed the methylation patterns in blood samples from patients and found regions outside the 5p deletion that regulate important biological processes, indicating that changes in the 5p region might disrupt gene modulation elsewhere, leading to varied symptoms.
Introduction: Cri-du-chat syndrome is generally diagnosed when patients present a high-pitched cry at birth, microcephaly, ocular hypertelorism, and prominent nasal bridge. The karyotype is useful to confirm deletions in the short arm of chromosome 5 (5p-) greater than 10 Mb. In cases of smaller deletions, it is necessary to resort to other molecular techniques such as fluorescence in situ hybridization, multiplex ligation-dependent probe amplification (MLPA) or genomic array.
View Article and Find Full Text PDF