First trimester diagnosis of an unusual case of double aneuploidy with karyotype 48,XXY,+18 (Klinefelter-Edwards syndromes)
Objective: Double aneuploidy cases involving autosomal and sex chromosomes are very rare. Therefore, it is difficult to determine the clinical features and prognosis of these cases. In this case, a fetus with 48,XYY,+18 karyotype is presented. Case(s): Cystic hygroma, cleft lip and palate,...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Perinatal Medicine Foundation
2022-04-01
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| Series: | Perinatal Journal |
| Online Access: | https://perinataljournal.com/Archive/Article/20220301003 |
| _version_ | 1797910344351350784 |
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| author | Hakan Gölbaşı Merve Saka Güvenç Ceren Gölbaşı İbrahim Ömeroğlu Atalay Ekin |
| author_facet | Hakan Gölbaşı Merve Saka Güvenç Ceren Gölbaşı İbrahim Ömeroğlu Atalay Ekin |
| author_sort | Hakan Gölbaşı |
| collection | DOAJ |
| description | Objective: Double aneuploidy cases involving autosomal and sex chromosomes are very rare. Therefore, it is difficult to determine the clinical features and prognosis of these cases. In this case, a fetus with 48,XYY,+18 karyotype is presented. Case(s): Cystic hygroma, cleft lip and palate, and clubbed foot were detected in the prenatal ultrasonographic evaluation of a 31-year-old pregnant woman at 13 weeks of gestation. Chorionic villus sampling revealed double aneuploidy including Klinefelter and Edwards syndromes. The molecular result was consistent with the occurrence of nondisjunction error involving chromosome 18 in maternal meiosis I (mat MI) but the finding of the extra X chromosome could not be fully explained. Post-abortion fetal pathology specimen confirmed prenatal diagnosis. Conclusion: Double aneuploidy cases may rarely present with structural anomalies due to maternal meiosis error, without advanced maternal age, as in this case. |
| first_indexed | 2024-04-10T11:24:02Z |
| format | Article |
| id | doaj.art-05d9a822042748bfa75cedd4c4e139ca |
| institution | Directory Open Access Journal |
| issn | 1305-3124 |
| language | English |
| last_indexed | 2024-04-10T11:24:02Z |
| publishDate | 2022-04-01 |
| publisher | Perinatal Medicine Foundation |
| record_format | Article |
| series | Perinatal Journal |
| spelling | doaj.art-05d9a822042748bfa75cedd4c4e139ca2023-02-15T16:18:31ZengPerinatal Medicine FoundationPerinatal Journal1305-31242022-04-013017578010.2399/prn.22.0301003First trimester diagnosis of an unusual case of double aneuploidy with karyotype 48,XXY,+18 (Klinefelter-Edwards syndromes)Hakan Gölbaşıhttps://orcid.org/0000-0001-8682-5537Merve Saka Güvençhttps://orcid.org/0000-0001-8842-0381Ceren Gölbaşıhttps://orcid.org/0000-0002-1844-1782İbrahim Ömeroğluhttps://orcid.org/0000-0001-9200-0208Atalay Ekinhttps://orcid.org/0000-0002-4712-3927 Objective: Double aneuploidy cases involving autosomal and sex chromosomes are very rare. Therefore, it is difficult to determine the clinical features and prognosis of these cases. In this case, a fetus with 48,XYY,+18 karyotype is presented. Case(s): Cystic hygroma, cleft lip and palate, and clubbed foot were detected in the prenatal ultrasonographic evaluation of a 31-year-old pregnant woman at 13 weeks of gestation. Chorionic villus sampling revealed double aneuploidy including Klinefelter and Edwards syndromes. The molecular result was consistent with the occurrence of nondisjunction error involving chromosome 18 in maternal meiosis I (mat MI) but the finding of the extra X chromosome could not be fully explained. Post-abortion fetal pathology specimen confirmed prenatal diagnosis. Conclusion: Double aneuploidy cases may rarely present with structural anomalies due to maternal meiosis error, without advanced maternal age, as in this case.https://perinataljournal.com/Archive/Article/20220301003 |
| spellingShingle | Hakan Gölbaşı Merve Saka Güvenç Ceren Gölbaşı İbrahim Ömeroğlu Atalay Ekin First trimester diagnosis of an unusual case of double aneuploidy with karyotype 48,XXY,+18 (Klinefelter-Edwards syndromes) Perinatal Journal |
| title | First trimester diagnosis of an unusual case of double aneuploidy with karyotype 48,XXY,+18 (Klinefelter-Edwards syndromes) |
| title_full | First trimester diagnosis of an unusual case of double aneuploidy with karyotype 48,XXY,+18 (Klinefelter-Edwards syndromes) |
| title_fullStr | First trimester diagnosis of an unusual case of double aneuploidy with karyotype 48,XXY,+18 (Klinefelter-Edwards syndromes) |
| title_full_unstemmed | First trimester diagnosis of an unusual case of double aneuploidy with karyotype 48,XXY,+18 (Klinefelter-Edwards syndromes) |
| title_short | First trimester diagnosis of an unusual case of double aneuploidy with karyotype 48,XXY,+18 (Klinefelter-Edwards syndromes) |
| title_sort | first trimester diagnosis of an unusual case of double aneuploidy with karyotype 48 xxy 18 klinefelter edwards syndromes |
| url | https://perinataljournal.com/Archive/Article/20220301003 |
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