CLINICAL IMPORTANCE OF PERICENTRIC INVERSION OF CHROMOSOME 9: A CASE REPORT OF MISCARRIAGE AND NEONATAL DEATH

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NOURI NAYEREH; NOURI NARGES; SEDGHI MARYAM

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Journal: Journal of Isfahan Medical School Year:2011 | Volume:29 | Issue:125 Page(s): 36-40

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Information Journal Paper

Title

CLINICAL IMPORTANCE OF PERICENTRIC INVERSION OF CHROMOSOME 9: A CASE REPORT OF MISCARRIAGE AND NEONATAL DEATH

Author(s)

NOURI NAYEREH | NOURI NARGES | SEDGHI MARYAM | Issue Writer Certificate

Keywords

INV (9)Q2

RECURRENT MISCARRIAGEQ2

NEONATAL DEATHQ2

CHROMOSOMAL ABNORMALITIESQ2

Abstract

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.

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APA: Copy

NOURI, NAYEREH, NOURI, NARGES, & SEDGHI, MARYAM. (2011). CLINICAL IMPORTANCE OF PERICENTRIC INVERSION OF CHROMOSOME 9: A CASE REPORT OF MISCARRIAGE AND NEONATAL DEATH. JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S), 29(125), 36-40. SID. https://sid.ir/paper/50984/en

Vancouver: Copy

NOURI NAYEREH, NOURI NARGES, SEDGHI MARYAM. CLINICAL IMPORTANCE OF PERICENTRIC INVERSION OF CHROMOSOME 9: A CASE REPORT OF MISCARRIAGE AND NEONATAL DEATH. JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S)[Internet]. 2011;29(125):36-40. Available from: https://sid.ir/paper/50984/en

IEEE: Copy

NAYEREH NOURI, NARGES NOURI, and MARYAM SEDGHI, “CLINICAL IMPORTANCE OF PERICENTRIC INVERSION OF CHROMOSOME 9: A CASE REPORT OF MISCARRIAGE AND NEONATAL DEATH,” JOURNAL OF ISFAHAN MEDICAL SCHOOL (I.U.M.S), vol. 29, no. 125, pp. 36–40, 2011, [Online]. Available: https://sid.ir/paper/50984/en

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