Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review
Abstract Background Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic informa...
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| Format: | Article |
| Language: | English |
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BMC
2019-12-01
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| Series: | BMC Medical Genomics |
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| Online Access: | https://doi.org/10.1186/s12920-019-0639-8 |
| _version_ | 1818418809853181952 |
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| author | Shaohua Sun Fang Zhan Jiusheng Jiang Xuerui Zhang Lei Yan Weiyi Cai Hailiang Liu Donghua Cao |
| author_facet | Shaohua Sun Fang Zhan Jiusheng Jiang Xuerui Zhang Lei Yan Weiyi Cai Hailiang Liu Donghua Cao |
| author_sort | Shaohua Sun |
| collection | DOAJ |
| description | Abstract Background Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic information. This report also provides more knowledge about trisomy 8 mosaicism and the prenatal diagnostic for clinicians. Case presentation In this present study, we reported one case of pregnancy woman with trisomy 8 mosaicism. Noninvasive prenatal testing prompted an abnormal Z-score, but further three dimension color ultrasound result suggested a single live fetus with no abnormality. The phenotypic of the pregnant woman was normal. Based on our results, there were no abnormal initial myeloid cells (< 10− 4), which suggested that the patient had no blood diseases. The peripheral blood karyotype of the patient was 47,XX,+ 8[67]/46,XX [13], and karyotype of amniotic fluid was 46, XX. The next generation sequencing (NGS) result suggested that the proportions of trisomy 8 in different tissues were obviously different; and 0% in amniotic fluid. Last, the chromosomes of the patient and her baby were confirmed using chromosome microarray analysis (CMA), and the results were arr[GRCh37](8) × 3,11p15.5p13(230750–33,455,733) × 2 hmz and normal. Conclusions This pregnancy woman was trisomy 8 mosaicism, but the phenotypic was normal, and also the fetus was normal. Carefully cytogenetic diagnoses should be performed for prenatal diagnose. |
| first_indexed | 2024-12-14T12:28:35Z |
| format | Article |
| id | doaj.art-518f73fd2aaa485090fcee40d2d01c98 |
| institution | Directory Open Access Journal |
| issn | 1755-8794 |
| language | English |
| last_indexed | 2024-12-14T12:28:35Z |
| publishDate | 2019-12-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Medical Genomics |
| spelling | doaj.art-518f73fd2aaa485090fcee40d2d01c982022-12-21T23:01:14ZengBMCBMC Medical Genomics1755-87942019-12-011211610.1186/s12920-019-0639-8Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature reviewShaohua Sun0Fang Zhan1Jiusheng Jiang2Xuerui Zhang3Lei Yan4Weiyi Cai5Hailiang Liu6Donghua Cao7Genetic Disease Laboratory, Dalian Maternal and Child Health Care HospitalGenetic Disease Laboratory, Dalian Maternal and Child Health Care HospitalGenetic Disease Laboratory, Dalian Maternal and Child Health Care HospitalGenetic Disease Laboratory, Dalian Maternal and Child Health Care HospitalGenetic Disease Laboratory, Dalian Maternal and Child Health Care HospitalCapitalBio Technology IncCapitalBio Technology IncGenetic Disease Laboratory, Dalian Maternal and Child Health Care HospitalAbstract Background Trisomy 8 mosaicism has a wide phenotypic variability, ranging from mild dysmorphic features to severe malformations. This report concluded a female pregnant woman with trisomy 8 mosaicism, and carefully cytogenetic diagnoses were performed to give her prenatal diagnostic information. This report also provides more knowledge about trisomy 8 mosaicism and the prenatal diagnostic for clinicians. Case presentation In this present study, we reported one case of pregnancy woman with trisomy 8 mosaicism. Noninvasive prenatal testing prompted an abnormal Z-score, but further three dimension color ultrasound result suggested a single live fetus with no abnormality. The phenotypic of the pregnant woman was normal. Based on our results, there were no abnormal initial myeloid cells (< 10− 4), which suggested that the patient had no blood diseases. The peripheral blood karyotype of the patient was 47,XX,+ 8[67]/46,XX [13], and karyotype of amniotic fluid was 46, XX. The next generation sequencing (NGS) result suggested that the proportions of trisomy 8 in different tissues were obviously different; and 0% in amniotic fluid. Last, the chromosomes of the patient and her baby were confirmed using chromosome microarray analysis (CMA), and the results were arr[GRCh37](8) × 3,11p15.5p13(230750–33,455,733) × 2 hmz and normal. Conclusions This pregnancy woman was trisomy 8 mosaicism, but the phenotypic was normal, and also the fetus was normal. Carefully cytogenetic diagnoses should be performed for prenatal diagnose.https://doi.org/10.1186/s12920-019-0639-8Trisomy 8 mosaicismKaryotyping and prenatal diagnosisNext generation sequencing (NGS) |
| spellingShingle | Shaohua Sun Fang Zhan Jiusheng Jiang Xuerui Zhang Lei Yan Weiyi Cai Hailiang Liu Donghua Cao Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review BMC Medical Genomics Trisomy 8 mosaicism Karyotyping and prenatal diagnosis Next generation sequencing (NGS) |
| title | Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review |
| title_full | Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review |
| title_fullStr | Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review |
| title_full_unstemmed | Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review |
| title_short | Karyotyping and prenatal diagnosis of 47,XX,+ 8[67]/46,XX [13] Mosaicism: case report and literature review |
| title_sort | karyotyping and prenatal diagnosis of 47 xx 8 67 46 xx 13 mosaicism case report and literature review |
| topic | Trisomy 8 mosaicism Karyotyping and prenatal diagnosis Next generation sequencing (NGS) |
| url | https://doi.org/10.1186/s12920-019-0639-8 |
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