Andrology-Open Access
Open Access

Department of Endocrinology and Metabology, University of Sao Paulo, Sao Paulo, Brazil

Biography

Laura da Silva Salvanini is a Brazilian biologist specializing in endocrinology and molecular genetics. She earned her degree in Biological Sciences from Universidade Presbiteriana Mackenzie in 2023. During her undergraduate studies, she conducted research at the Laboratory of Hormones and Molecular Genetics (LIM/42) at the Hospital das Clínicas, Faculty of Medicine, University of São Paulo (HCFMUSP), under the guidance of Dr. Sorahia Domenice, with support from FAPESP.

Publications

• Research Article   
  Prevalence and Patterns of Y Chromosome Microdeletions in Patients with Differences of Sex Development and 45,X Mosaicism
  Author(s): Laura da Silva Salvanini, Elinaelma Suelane do Nascimento Silva, Jose Antonio Diniz Faria Junior, Renata Scalco, Alexander Augusto de Lima Jorge, Mirian Yumie Nishi, Berenice Bilharinho de Mendonca and Sorahia Domenice*
  
  Background: Sex development in mammals is regulated by a complex interplay of genetic and epigenetic mechanisms. Deviations in this process can lead to Differences of Sex Development (DSD), including sex chromosome DSD conditions such as 45,X/46,XY mosaicism. Y chromosome microdeletions, particularly in the Azoospermia Factor (AZF) region, have been associated with this condition due to their potential to cause Y chromosome instability, leading to the formation of 45,X cell lineages. This study investigated the frequency and patterns of Yq microdeletions in subjects with sex chromosome DSD and 45,X mosaicism. Methods: We analyzed 28 patients with sex chromosome DSD, all of whom had a 45,X cell lineage identified in their karyotype. Yq microdeletions were assessed using conventional and multiplex PCR, targeting 32 Sequence-Tagged Sites (STS)... View More»
  DOI: 10.35248/2167-0250.24.13.331

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