A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report
Pericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2�20There is no phenotypic effect in the majority of pericentric inversion heterozygote carriers, when it is a balanced rearrangement. However, miscarriages, infertility and/or chromosomally unbalance...
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| Format: | Article |
| Language: | English |
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Oman Medical Specialty Board
2011-11-01
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| Series: | Oman Medical Journal |
| Subjects: | |
| Online Access: | http://journals.indexcopernicus.com/fulltxt.php?ICID=982298 |
| _version_ | 1819034860084264960 |
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| author | Hossain Khodaei Naeimeh Tayebi |
| author_facet | Hossain Khodaei Naeimeh Tayebi |
| author_sort | Hossain Khodaei |
| collection | DOAJ |
| description | Pericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2�20There 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. |
| first_indexed | 2024-12-21T07:40:26Z |
| format | Article |
| id | doaj.art-6eee45ff974a4d6682aa7a6252bf6dce |
| institution | Directory Open Access Journal |
| issn | 1999-768X 2070-5204 |
| language | English |
| last_indexed | 2024-12-21T07:40:26Z |
| publishDate | 2011-11-01 |
| publisher | Oman Medical Specialty Board |
| record_format | Article |
| series | Oman Medical Journal |
| spelling | doaj.art-6eee45ff974a4d6682aa7a6252bf6dce2022-12-21T19:11:19ZengOman Medical Specialty BoardOman Medical Journal1999-768X2070-52042011-11-01266441443A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case ReportHossain KhodaeiNaeimeh TayebiPericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2�20There 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.http://journals.indexcopernicus.com/fulltxt.php?ICID=982298Miscarriage1Pericentric inversion of chromosome 2 |
| spellingShingle | Hossain Khodaei Naeimeh Tayebi A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report Oman Medical Journal Miscarriage1 Pericentric inversion of chromosome 2 |
| title | A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report |
| title_full | A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report |
| title_fullStr | A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report |
| title_full_unstemmed | A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report |
| title_short | A Rare Case of Pericentric Inversion, Inv (21) (p12;q22) in Repeated Pregnancy Loss: A Case Report |
| title_sort | rare case of pericentric inversion inv 21 p12 q22 in repeated pregnancy loss a case report |
| topic | Miscarriage1 Pericentric inversion of chromosome 2 |
| url | http://journals.indexcopernicus.com/fulltxt.php?ICID=982298 |
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