Document Detail


A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report.
MedLine Citation:
PMID:  22253956     Owner:  NLM     Status:  PubMed-not-MEDLINE    
Abstract/OtherAbstract:
Pericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2%. There is no phenotypic effect in the majority of pericentric inversion heterozygote carriers, when it is a balanced rearrangement. However, miscarriages, infertility and/or chromosomally unbalanced offspring can be observed in carriers of a pericentric inversion. This is a case of pericentric inversion of one chromosome 21: inv (21) (p12; q22) in repeated pregnancy loss. A couple was referred for cytogenetic examination due to idiopathic miscarriages. The proband proved to be a carrier of chromosomal inversion and her partner's karyotype was found to be normal. The karyotype of the proband is 46, xx, inv (21) (p12; q22). This abnormal karyotype is reported as a probable reason of miscarriage in the investigated couple. The risk of further miscarriages and the risk of a progeny with abnormal karyotype are rather high. Therefore, amniocenthesis for finding the chromosomal abnormality as a prenatal diagnosis are proposed for the patient if future pregnancy does not lead to miscarriage.
Authors:
Naeimeh Tayebi; Hossain Khodaei
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Oman medical journal     Volume:  26     ISSN:  2070-5204     ISO Abbreviation:  Oman Med J     Publication Date:  2011 Nov 
Date Detail:
Created Date:  2012-01-18     Completed Date:  2012-10-02     Revised Date:  2013-05-29    
Medline Journal Info:
Nlm Unique ID:  101526350     Medline TA:  Oman Med J     Country:  Oman    
Other Details:
Languages:  eng     Pagination:  441-3     Citation Subset:  -    
Affiliation:
Genetic Research Center- Shahid Fiazbakhsh Rehabilitation Comprehensive Center- Welfare Organization,, Third Azadshar Square, Yazd, Iran.
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