Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells
Objective: Prenatal detection of trisomy 8 mosaicism can be misleading and remains challenging in genetic counseling. Identifying cases of partial or complete trisomy 8 mosaicism will highlight the pitfalls of conventional karyotyping in prenatal amniocentesis for partial or complete trisomy 8 mosai...
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| Format: | Article |
| Language: | English |
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Elsevier
2014-12-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455914001958 |
| _version_ | 1818129648617259008 |
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| author | Meng-Che Tsai Hsueh-Yin Cheng Mei-Tsz Su Ming Chen Pao-Lin Kuo |
| author_facet | Meng-Che Tsai Hsueh-Yin Cheng Mei-Tsz Su Ming Chen Pao-Lin Kuo |
| author_sort | Meng-Che Tsai |
| collection | DOAJ |
| description | Objective: Prenatal detection of trisomy 8 mosaicism can be misleading and remains challenging in genetic counseling. Identifying cases of partial or complete trisomy 8 mosaicism will highlight the pitfalls of conventional karyotyping in prenatal amniocentesis for partial or complete trisomy 8 mosaicism.
Case report: The patient was born uneventfully at term to a healthy 34-year-old mother. Analysis of the amniotic fluid (AF) cells showed a normal male karyotype. At birth, the newborn presented dysmorphic features, including asymmetric mandibles and ears, anteverted nostrils with a relatively long philtrum, retrognathia, and a clenched hand on the left side. Imaging studies revealed agenesis of the corpus callosum with bilateral colpocephaly, a common arterial trunk bifurcating into the left subclavian and carotid arteries, and bilateral pelviectasis. Cytogenetic analysis of the blood revealed mosaicism of partial trisomy 8: 47,XY,+del(8) (q21.3) [8]/46,XY [12]. Array comparative genomic hybridization (array-CGH) revealed 82.9 Mb duplications at chromosome 8p23.3-8q21.3 with dosage variations. Interphase fluorescence in situ hybridization analysis of urine sediments and buccal smears were compatible with mosaic compositions. A small colony of AF cells was found to have partial trisomy 8 in repeated analysis.
Conclusion: Conventional karyotyping through amniocentesis has limitations particularly in detecting rare trisomy mosaicism if trisomic cells show growth disadvantage. Array-CGH using uncultured cells may be of help in providing more information on genetic dosage variations in such cases. |
| first_indexed | 2024-12-11T07:52:29Z |
| format | Article |
| id | doaj.art-2561424d78f54e8183c04aa289c7e0b1 |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-11T07:52:29Z |
| publishDate | 2014-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-2561424d78f54e8183c04aa289c7e0b12022-12-22T01:15:18ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592014-12-0153459860110.1016/j.tjog.2014.06.003Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cellsMeng-Che Tsai0Hsueh-Yin Cheng1Mei-Tsz Su2Ming Chen3Pao-Lin Kuo4Department of Pediatrics, National Cheng Kung University Hospital and College of Medicine, Tainan, TaiwanCytogenetic Laboratory, Department of Pathology, National Cheng Kung University Hospital, Tainan, TaiwanDepartment of Obstetrics and Gynecology, National Cheng Kung University Hospital and College of Medicine, Tainan, TaiwanDepartment of Genomic Medicine and Center for Medical Genetics, Changhua Christian Hospital, Changhua, TaiwanDepartment of Obstetrics and Gynecology, National Cheng Kung University Hospital and College of Medicine, Tainan, TaiwanObjective: Prenatal detection of trisomy 8 mosaicism can be misleading and remains challenging in genetic counseling. Identifying cases of partial or complete trisomy 8 mosaicism will highlight the pitfalls of conventional karyotyping in prenatal amniocentesis for partial or complete trisomy 8 mosaicism. Case report: The patient was born uneventfully at term to a healthy 34-year-old mother. Analysis of the amniotic fluid (AF) cells showed a normal male karyotype. At birth, the newborn presented dysmorphic features, including asymmetric mandibles and ears, anteverted nostrils with a relatively long philtrum, retrognathia, and a clenched hand on the left side. Imaging studies revealed agenesis of the corpus callosum with bilateral colpocephaly, a common arterial trunk bifurcating into the left subclavian and carotid arteries, and bilateral pelviectasis. Cytogenetic analysis of the blood revealed mosaicism of partial trisomy 8: 47,XY,+del(8) (q21.3) [8]/46,XY [12]. Array comparative genomic hybridization (array-CGH) revealed 82.9 Mb duplications at chromosome 8p23.3-8q21.3 with dosage variations. Interphase fluorescence in situ hybridization analysis of urine sediments and buccal smears were compatible with mosaic compositions. A small colony of AF cells was found to have partial trisomy 8 in repeated analysis. Conclusion: Conventional karyotyping through amniocentesis has limitations particularly in detecting rare trisomy mosaicism if trisomic cells show growth disadvantage. Array-CGH using uncultured cells may be of help in providing more information on genetic dosage variations in such cases.http://www.sciencedirect.com/science/article/pii/S1028455914001958amniocentesisarray comparative genomic hybridizationcytogenetic analysisgenetic counselingtrisomy 8 mosaicism |
| spellingShingle | Meng-Che Tsai Hsueh-Yin Cheng Mei-Tsz Su Ming Chen Pao-Lin Kuo Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells Taiwanese Journal of Obstetrics & Gynecology amniocentesis array comparative genomic hybridization cytogenetic analysis genetic counseling trisomy 8 mosaicism |
| title | Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells |
| title_full | Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells |
| title_fullStr | Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells |
| title_full_unstemmed | Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells |
| title_short | Partial trisomy 8 mosaicism not detected by cultured amniotic-fluid cells |
| title_sort | partial trisomy 8 mosaicism not detected by cultured amniotic fluid cells |
| topic | amniocentesis array comparative genomic hybridization cytogenetic analysis genetic counseling trisomy 8 mosaicism |
| url | http://www.sciencedirect.com/science/article/pii/S1028455914001958 |
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