The mechanisms of formation and clinical effects of two chromosomal deletions: del(X)(p11.23) e del(8)(p23.1)

Author(s)

Luiz Carlos Zangrande Vieira

• Document type: Master's Dissertation
• Press: São Paulo. , gráficos, ilustrações, tabelas.
• Institution: Universidade de São Paulo (USP). Instituto de Biociências (IBIOC/SB)
• Defense date: 2007-08-17

Examining board members

Angela Maria Vianna Morgante; Maria Isabel de Souza Aranha Melaragno; Eloiza Helena Tajara da Silva

• Advisor: Angela Maria Vianna Morgante
• Field of knowledge: Biological Sciences - Genetics
• Indexed in: Banco de Dados Bibliográficos da USP-DEDALUS; Biblioteca Digital de Teses e Dissertações - USP
• Location: Universidade de São Paulo. Biblioteca do Instituto de Biociências; IB/M-1306

Abstract

Structural chromosomal alterations related to clinical phenotypes bring the opportunity to identify gene mutations determining the pathologies, because the causative genes may have been disrupted by the breaks or may have an altered number of copies. The delimitation of the segments involved in the chromosomal rearrangements is necessary for these genotype-phenotype correlations. The characterization of breakpoint and junction sequences in these chromosome alterations enables the identification of mechanisms originating them, and evidence has been produced pointing to the participation of particular genomic sequences in their formation. In this work, we studied two chromosomal deletions in patients with syndromic mental retardation, combining chromosomal analysis by fluorescent in situ hybridization (FISH) to DNA analysis. Our aim was to determine the mechanisms that originated these aberrations and how they were involved with the clinical phenotypes. (AU)