Preimplantation genetic diagnosis of a reciprocal translocation t(3;11)(q27.3;q24.3) in siblings.

摘要: Preimplantation genetic diagnosis (PGD) was performed in two couples to avoid chromosomally unbalanced progeny a family which brother and sister carry an identical maternally inherited balanced translocation t(3;11)(q27.3;q24.3). Embryos were biopsied 3 days after fertilization blastomeres analysed by fluorescent in-situ hybridization (FISH). classified as or normal/ balanced. In the first case, male carrier his wife underwent one IVF/PGD treatment cycle. all, 18 embryos analysed. Of those, 15 revealed karyotype. For embryo, results not conclusive, from embryo contradictory normal/balanced subsequently transferred. A singleton pregnancy achieved. The PGD analysis confirmed at 16 weeks gestation amniocentesis. At term, healthy girl with karyotype born. Pregnancy delivery without complications. second female her husband cycles. During cycle, three One designated transferred but no cycle none appeared suitable for transfer. couple decided undergo further treatment. Our indicate that individuals carrying reciprocal is feasible approach obtain normal chromosome balance both spontaneous induced abortion.