Assuntos
Fibroblastos/patologia , Mixossarcoma/patologia , Neoplasias de Tecidos Moles/patologia , Adulto , Biópsia por Agulha Fina , Aberrações Cromossômicas , Análise Citogenética , Dedos , Humanos , Masculino , Mixossarcoma/genética , Mixossarcoma/cirurgia , Recidiva Local de Neoplasia , Neoplasias de Tecidos Moles/genética , Neoplasias de Tecidos Moles/cirurgiaRESUMO
Chromosomal studies were carried out in a family, the probandus showed the existence of a reciprocal translocation 8:11. The cytogenetic research on other three members of the family, one of them was carried of the same translocation, and was advised for amniocentesis. The chromosomics researchs of two amniotics fluids showed a normal kariotype in the first amniocentesis but in the second study showed the same reciprocal translocation. Upon our results, we discussed the possible implication of said reciprocal translocation in genetic council as well as in the mental retard and congenitals malformations.
Assuntos
Cromossomos Humanos Par 11 , Cromossomos Humanos Par 8 , Translocação Genética , Anormalidades Congênitas/genética , Feminino , Aconselhamento Genético , Humanos , Deficiência Intelectual/genética , Cariotipagem , Masculino , LinhagemRESUMO
A review is given of our experience in the pericentric inversions of chromosome 9 (26 cases). We examine the relevance of this pericentric inversion in the phenotype of the carriers, the significance of pericentric inversions of chromosome 9 in infertility, and the occurrence of aneusomic recombinants. We also discuss the importance of pericentric inversions of chromosome 9 in the genetic counselling and their use as a family maker.