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Grzesiuk, J.D.. Molecular cytogenetic characterization of apparently balanced chromosomal rearrangements associated with infertility. 2012, Master’s degree in Science, Faculdade de Medicina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, 2012. Reciprocal translocations are the most common balanced rearrangement in humans. Often individuals with balanced rearrangements show no clinical findings. However, in meiosis, the pairing between translocated chromosomes forms a quadrivalent cross-shaped figure which has the effect of making chromosome disjunction uncertain and, depending on the rearrangement, and on the segregation of the unbalanced chromosomes, the individual can be infertile, can presentwith an increased risk of spontaneous abortions or can have an offspring with abnormal phenotype. We have studied two families of infertile patients, who were carriers of chromosomal translocations. The objective was to characterize the cytogenetic and cytogenomic alterations related to male infertility in patients with apparently balanced rearrangements using classical cytogenetic techniques (GTG banding), molecular cytogenetics (FISH) and cytogenomics (array-CGH). Seven subjects of the family 1 were studied, including three carriers of translocation (X;22), one azoospermic. Two cases of mosaicism for Turner syndrome were detected in this family. The second family consisted of two oligozoospermic brothers with translocation (8;13). FISH was used to characterize the karyotypesas 46, XX or 46,XY, t(X;22)(p22.3;q11.2) for the members of the family 1 and 46,XY,t(8;13)(q13;q14) for family 2. Array-CGHwas also performedusing the Agilent platform 2x400K, to detectassociated copy number variations of some of the candidate genes that could be related toinfertility. In the family 1 the candidate genes were 132 piRNAs sequences and DDX11, Jag 2 and ADAM18 genes. The candidate genes were ADAM18 for patients 8 e 9 and POTE for patient 9.

Caracterização Citogenética Molecular de Rearranjos Cromossômicos Aparentemente Equilibrados Associados ao Fenótipo de Infertilidade