Publications by authors named "Yanca Gasparini"
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 PDFObjective: To report the effectiveness of early molecular diagnosis in the clinical management of rare diseases, presenting 8 patients with 8p23.1DS who have clinical features that overlap the phenotypic spectrum of 22q11.2DS.
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- Bloom syndrome (BS) is a rare genetic disorder characterized by growth deficiencies, immune system issues, and a higher likelihood of developing cancers due to defects in DNA repair mechanisms, particularly linked to mutations in the BLM gene.* -
- The study involved two patients diagnosed with BS, where researchers used RNA-seq to analyze gene expression differences between these patients and healthy controls, identifying 216 genes related to immune response and apoptosis.* -
- Findings indicate that altered gene expression in immune and apoptosis pathways may explain BS symptoms like recurrent infections and growth problems, highlighting the potential of transcriptome analysis in understanding other chromosome instability disorders.*
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 associated with the syndrome.
Mosaic trisomy 12 is a rare anomaly, and only 9 cases of live births with this condition have been reported in the literature. The clinical phenotype is variable, including neuropsychomotor developmental delay, congenital heart disease, microcephaly, cutaneous spots, facial asymmetry, prominent ears, hypotonia, retinopathy, and sensorineural hearing loss. A 2-year-old female presented with neuropsychomotor developmental delay, prominent forehead, dolichocephaly, patchy skin pigmentation, and unexpected overgrowth at birth.
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