A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)
Abstract Background Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing attention has been paid to the clinical application of the non-invasive de...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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BMC
2018-06-01
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| Series: | Molecular Cytogenetics |
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| Online Access: | http://link.springer.com/article/10.1186/s13039-018-0381-5 |
| _version_ | 1818129768106688512 |
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| author | Jun-Kun Chen Ping Liu Li-Qin Hu Qing Xie Quan-Fei Huang Hai-Liang Liu |
| author_facet | Jun-Kun Chen Ping Liu Li-Qin Hu Qing Xie Quan-Fei Huang Hai-Liang Liu |
| author_sort | Jun-Kun Chen |
| collection | DOAJ |
| description | Abstract Background Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing attention has been paid to the clinical application of the non-invasive detection of foetal sub-chromosomal duplications and deletions beyond common aneuploidies. Case presentation A 32-year-old healthy pregnant woman was referred to the Medical Genetic Centre of Ganzhou Maternal and Child Health Care Hospital. As routine practice, ultrasound examination at a gestational age of 16 weeks showed that the foetus is normal. To avoid invasive prenatal diagnosis procedures, an NIPT was offered to further screen for common foetal chromosomal abnormalities. The result showed that there was an approximately 50.94 Mb duplication in p11.32-q21.2 of chromosome 18 and an approximately 58.46 Mb deletion in p22.33-p11.1 of chromosome X. In addition, the chromosome karyotypes of the parents and foetus were also analysed. Chromosome karyotype analysis results showed that foetal karyotype was 46,X,der(18), the maternal karyotype was 46,XX,t(X;18)(q13;q21.3), and the paternal karyotype revealed no obvious abnormality. Conclusion In this case, we successfully detected a healthy pregnant woman with balanced translocation X;18(q13;q21.3) and described the foetal karyotype as 46,X,der(18)t(X;18)(q11;q21.1)mat. Our report illustrated these cases which present complex X;autosome balance translocation and X;autosome unbalance translocation which may contribute to severe clinical phenotypes. In addition, our report also proved that the interruption of genes in the Xq critical region is not only reason of primary infertility. Finally, we prompted that NIPT might play a role in the first trimester screening of sub-chromosomal rearrangement. |
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| institution | Directory Open Access Journal |
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| language | English |
| last_indexed | 2024-12-11T07:54:23Z |
| publishDate | 2018-06-01 |
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| series | Molecular Cytogenetics |
| spelling | doaj.art-a56a9ace3cb24dfc91667cec1e16bb772022-12-22T01:15:15ZengBMCMolecular Cytogenetics1755-81662018-06-011111510.1186/s13039-018-0381-5A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3)Jun-Kun Chen0Ping Liu1Li-Qin Hu2Qing Xie3Quan-Fei Huang4Hai-Liang Liu5Medical Genetic Centre of Ganzhou Maternal and Child Health Care HospitalMedical Genetic Centre of Ganzhou Maternal and Child Health Care HospitalMedical Genetic Centre of Ganzhou Maternal and Child Health Care HospitalMedical Genetic Centre of Ganzhou Maternal and Child Health Care HospitalCapitalBio Genomics Co., Ltd.CapitalBio Genomics Co., Ltd.Abstract Background Non-invasive prenatal testing (NIPT) evaluates circulating cell-free DNA (cfDNA) and has been widely applied, with highly accurate results for detecting foetal trisomies 21, 18 and 13. Recently, increasing attention has been paid to the clinical application of the non-invasive detection of foetal sub-chromosomal duplications and deletions beyond common aneuploidies. Case presentation A 32-year-old healthy pregnant woman was referred to the Medical Genetic Centre of Ganzhou Maternal and Child Health Care Hospital. As routine practice, ultrasound examination at a gestational age of 16 weeks showed that the foetus is normal. To avoid invasive prenatal diagnosis procedures, an NIPT was offered to further screen for common foetal chromosomal abnormalities. The result showed that there was an approximately 50.94 Mb duplication in p11.32-q21.2 of chromosome 18 and an approximately 58.46 Mb deletion in p22.33-p11.1 of chromosome X. In addition, the chromosome karyotypes of the parents and foetus were also analysed. Chromosome karyotype analysis results showed that foetal karyotype was 46,X,der(18), the maternal karyotype was 46,XX,t(X;18)(q13;q21.3), and the paternal karyotype revealed no obvious abnormality. Conclusion In this case, we successfully detected a healthy pregnant woman with balanced translocation X;18(q13;q21.3) and described the foetal karyotype as 46,X,der(18)t(X;18)(q11;q21.1)mat. Our report illustrated these cases which present complex X;autosome balance translocation and X;autosome unbalance translocation which may contribute to severe clinical phenotypes. In addition, our report also proved that the interruption of genes in the Xq critical region is not only reason of primary infertility. Finally, we prompted that NIPT might play a role in the first trimester screening of sub-chromosomal rearrangement.http://link.springer.com/article/10.1186/s13039-018-0381-5The non-invasive prenatal testing (NIPT)Sub-chromosomal abnormalitiesUnbalanced translocationX-chromosome inactivation |
| spellingShingle | Jun-Kun Chen Ping Liu Li-Qin Hu Qing Xie Quan-Fei Huang Hai-Liang Liu A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3) Molecular Cytogenetics The non-invasive prenatal testing (NIPT) Sub-chromosomal abnormalities Unbalanced translocation X-chromosome inactivation |
| title | A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3) |
| title_full | A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3) |
| title_fullStr | A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3) |
| title_full_unstemmed | A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3) |
| title_short | A foetus with 18p11.32-q21.2 duplication and Xp22.33-p11.1 deletion derived from a maternal reciprocal translocation t(X;18)(q13;q21.3) |
| title_sort | foetus with 18p11 32 q21 2 duplication and xp22 33 p11 1 deletion derived from a maternal reciprocal translocation t x 18 q13 q21 3 |
| topic | The non-invasive prenatal testing (NIPT) Sub-chromosomal abnormalities Unbalanced translocation X-chromosome inactivation |
| url | http://link.springer.com/article/10.1186/s13039-018-0381-5 |
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