نوع مقاله : Case Report
1 کارشناس ارشد، آزمایشگاه ژنتیک، مرکز آموزشی درمانی الزهرا (س)، دانشگاه علوم پزشکی اصفهان، اصفهان، ایران
2 پزشک عمومی، مشاور ژنتیک، مرکز مشاورهی ژنتیک توحید، اصفهان، ایران
عنوان مقاله [English]
Background: In this article, we report a non consanguineous normal couple that had a history of one abortion and a death of 3 years old daughter.Case report: After genetic counseling and drawing the familial pedigree, we found that man's mother had history of 3 abortions and 2 death of newborns in her non consanguineous marriage. The man has two normal brothers with completely different morphology, body mass index, and facial features from the proband. Chromosomal study with GC-Banding method on proband's whole blood samples show a pericentric inversion of chromosome 9, [Inv (9) (p11-q13)], in the man but the woman had normal karyotype. Then chromosomal analysis was performed for man's mother and she was carrier of this rearrangement such as her son too. Because of non cooperation of other family members, the chromosomal study on other members of family was not possible. Conclusion: Pericentric inversion of chromosome 9 [Inv (9) (p11-q13)] is one of the frequent chromosomal rearrangements which is consider to be a normal variant with prevalence of 1-3% in population. Although it seems not to correlate with abnormal phenotypes, there have been many controversial reports indicating that it may lead to abnormal clinical conditions such as infertility, congenital heart disease, still birth and dysmorphic features in carriers due to important genes exist in this region that have key rols in gametogenesis, organogenesis and metabolism. In addition, pericentric inversions cause derangement in mating pf homologue chromosomes in meiosis lead to production of abnormal gametes.