Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays
Objective: To present the clinical and molecular features of a fetus with confined trisomy 16 mosaicism with maternal uniparental disomy (UPD), using various prenatal diagnostic techniques. Materials and Methods: Chromosomal karyotyping was performed on samples of chorionic villi, amniotic fluid cel...
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| Format: | Article |
| Language: | English |
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Elsevier
2009-06-01
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| Series: | Taiwanese Journal of Obstetrics & Gynecology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S1028455909602771 |
| _version_ | 1818129086305796096 |
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| author | Yung-Kuei Soong Tzu-Hao Wang Yun-Shien Lee Chih-Ping Chen Chia-Lin Chang Szu-Ying Ho An-Shine Chao Po-Jen Cheng Shuenn-Dyh Chang |
| author_facet | Yung-Kuei Soong Tzu-Hao Wang Yun-Shien Lee Chih-Ping Chen Chia-Lin Chang Szu-Ying Ho An-Shine Chao Po-Jen Cheng Shuenn-Dyh Chang |
| author_sort | Yung-Kuei Soong |
| collection | DOAJ |
| description | Objective: To present the clinical and molecular features of a fetus with confined trisomy 16 mosaicism with maternal uniparental disomy (UPD), using various prenatal diagnostic techniques.
Materials and Methods: Chromosomal karyotyping was performed on samples of chorionic villi, amniotic fluid cells, amniotic membrane, umbilical cord, fetal skin, and placenta from a fetus with elevated nuchal translucency. Polymorphic short tandem repeat markers and Affymetrix single nucleotide polymorphism (SNP) mapping chips were used for molecular analyses.
Results: Karyotypes from chorionic villi and amniocytes showed 47, XX, +16 and 46, XX, respectively. Short tandem repeat markers on chromosome 16 suggested maternal UPD for chromosome 16. Affymetrix 10K SNP mapping chips were used to simultaneously confirm the difference in karyotypes between the placenta and amniocytes and to diagnose UPD for chromosome 16. Fetal ultrasonography and magnetic resonance imaging identified severe intrauterine growth restriction (IUGR). Autopsy revealed IUGR, incomplete lobulation of bilateral lungs, and malrotation of the intestines. The karyotypes of umbilical cord, fetal skin and amniotic membrane were 46, XX, and the trisomy 16 karyotype appeared to be confined to the placenta.
Conclusion: UPD should be investigated as a possible etiology in all cases of unexplained IUGR. SNP microarrays can be useful for confirming this diagnosis. |
| first_indexed | 2024-12-11T07:43:33Z |
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| id | doaj.art-f393d519d29f4cef83447ce3db002e2c |
| institution | Directory Open Access Journal |
| issn | 1028-4559 |
| language | English |
| last_indexed | 2024-12-11T07:43:33Z |
| publishDate | 2009-06-01 |
| publisher | Elsevier |
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| series | Taiwanese Journal of Obstetrics & Gynecology |
| spelling | doaj.art-f393d519d29f4cef83447ce3db002e2c2022-12-22T01:15:30ZengElsevierTaiwanese Journal of Obstetrics & Gynecology1028-45592009-06-0148215215810.1016/S1028-4559(09)60277-1Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping MicroarraysYung-Kuei Soong0Tzu-Hao Wang1Yun-Shien Lee2Chih-Ping Chen3Chia-Lin Chang4Szu-Ying Ho5An-Shine Chao6Po-Jen Cheng7Shuenn-Dyh Chang8Department of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, TaiwanDepartment of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, TaiwanGenomic Medicine Research Core Laboratory, Chang Gung Memorial Hospital, TaiwanDepartment of Obstetrics and Gynecology and Department of Medical Research, Mackay Memorial Hospital, Taipei, TaiwanDepartment of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, TaiwanDepartment of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, TaiwanDepartment of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, TaiwanDepartment of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, TaiwanDepartment of Obstetrics and Gynecology, Lin-Kou Medical Center, Chang Gung Memorial Hospital, Chang Gung University, TaiwanObjective: To present the clinical and molecular features of a fetus with confined trisomy 16 mosaicism with maternal uniparental disomy (UPD), using various prenatal diagnostic techniques. Materials and Methods: Chromosomal karyotyping was performed on samples of chorionic villi, amniotic fluid cells, amniotic membrane, umbilical cord, fetal skin, and placenta from a fetus with elevated nuchal translucency. Polymorphic short tandem repeat markers and Affymetrix single nucleotide polymorphism (SNP) mapping chips were used for molecular analyses. Results: Karyotypes from chorionic villi and amniocytes showed 47, XX, +16 and 46, XX, respectively. Short tandem repeat markers on chromosome 16 suggested maternal UPD for chromosome 16. Affymetrix 10K SNP mapping chips were used to simultaneously confirm the difference in karyotypes between the placenta and amniocytes and to diagnose UPD for chromosome 16. Fetal ultrasonography and magnetic resonance imaging identified severe intrauterine growth restriction (IUGR). Autopsy revealed IUGR, incomplete lobulation of bilateral lungs, and malrotation of the intestines. The karyotypes of umbilical cord, fetal skin and amniotic membrane were 46, XX, and the trisomy 16 karyotype appeared to be confined to the placenta. Conclusion: UPD should be investigated as a possible etiology in all cases of unexplained IUGR. SNP microarrays can be useful for confirming this diagnosis.http://www.sciencedirect.com/science/article/pii/S1028455909602771microarray-based comparative genomic hybridizationsingle nucleotide polymorphism markersuniparental disomy |
| spellingShingle | Yung-Kuei Soong Tzu-Hao Wang Yun-Shien Lee Chih-Ping Chen Chia-Lin Chang Szu-Ying Ho An-Shine Chao Po-Jen Cheng Shuenn-Dyh Chang Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays Taiwanese Journal of Obstetrics & Gynecology microarray-based comparative genomic hybridization single nucleotide polymorphism markers uniparental disomy |
| title | Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays |
| title_full | Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays |
| title_fullStr | Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays |
| title_full_unstemmed | Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays |
| title_short | Genome-Wide Detection of Uniparental Disomy in a Fetus with Intrauterine Growth Restriction Using Genotyping Microarrays |
| title_sort | genome wide detection of uniparental disomy in a fetus with intrauterine growth restriction using genotyping microarrays |
| topic | microarray-based comparative genomic hybridization single nucleotide polymorphism markers uniparental disomy |
| url | http://www.sciencedirect.com/science/article/pii/S1028455909602771 |
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