وثيقة

A rare case of pericentric inversion, Inv (21) (p12;q22) in repeated pregnancy loss : a case report.

المعرف
DOI 10. 5001/omj.2011.112
مؤلف
المساهمون
الناشر
Oman Medical Specialty Board.
ميلادي
2011-11
اللغة
الأنجليزية
الملخص الإنجليزي
Pericentric inversions are among the most frequentchromosomal rearrangements with a frequency of 1-2%. Thereis no phenotypic effect in the majority of pericentric inversionheterozygote carriers, when it is a balanced rearrangement.However, miscarriages, infertility and/or chromosomallyunbalanced offspring can be observed in carriers of a pericentricinversion. This is a case of pericentric inversion of one chromosome21: inv (21) (p12; q22) in repeated pregnancy loss. A couple wasreferred for cytogenetic examination due to idiopathic miscarriages.The proband proved to be a carrier of chromosomal inversion andher partner's karyotype was found to be normal. The karyotypeof the proband is 46, xx, inv (21) (p12; q22). This abnormalkaryotype is reported as a probable reason of miscarriage in theinvestigated couple. The risk of further miscarriages and the riskof a progeny with abnormal karyotype are rather high. Therefore,amniocenthesis for finding the chromosomal abnormality as aprenatal diagnosis are proposed for the patient if future pregnancydoes not lead to miscarriage.
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Tayebi, Naeimeh. Khodaei, Hossain (2011). A rare case of pericentric inversion, Inv (21) (p12;q22) in repeated pregnancy loss : a case report. Oman Medical Journal, 26 (6), 441-443.
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Tayebi, Naeimeh.
Oman Medical Specialty Board.
2010-01