Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report
Paternal uniparental disomy 14 (UDP(14)pat) is a rare imprinting disorder with a set of unique neonatal clinical features documented, including craniofacial abnormalities, thoracic and abdominal wall defects, and polyhydraminos. To date, no studies focus on prenatal diagnosis of uniparental disomy h...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2019-03-01
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| Series: | Journal of the Formosan Medical Association |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S092966461830651X |
| _version_ | 1818279359299977216 |
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| author | Chih-Ling Chen Chien-Nan Lee Ming-Wei Lin Wen-Wei Hsu Yi-Yun Tai Shin-Yu Lin |
| author_facet | Chih-Ling Chen Chien-Nan Lee Ming-Wei Lin Wen-Wei Hsu Yi-Yun Tai Shin-Yu Lin |
| author_sort | Chih-Ling Chen |
| collection | DOAJ |
| description | Paternal uniparental disomy 14 (UDP(14)pat) is a rare imprinting disorder with a set of unique neonatal clinical features documented, including craniofacial abnormalities, thoracic and abdominal wall defects, and polyhydraminos. To date, no studies focus on prenatal diagnosis of uniparental disomy have been published. We report a case of a fetus with abnormal ultrasound features at 18 weeks of gestation and normal karyotype result. Subsequent Single nucleotide polymorphism (SNP)-based Affymetrix 750K Microarray analysis revealed the complete loss of heterozygosity for chromosome 14, identifying a case of uniparental disomy. Postmortem examination of the aborted fetus at 21 weeks, coupled with further Affymetrix 750K microarray analysis on the parents, confirmed the diagnosis of parental uniparental disomy for chromosome 14. Keywords: Paternal uniparental disomy 14, Prenatal diagnosis, Uniparental disomy |
| first_indexed | 2024-12-12T23:32:04Z |
| format | Article |
| id | doaj.art-3c6a194a514d46d8a39732b239cae385 |
| institution | Directory Open Access Journal |
| issn | 0929-6646 |
| language | English |
| last_indexed | 2024-12-12T23:32:04Z |
| publishDate | 2019-03-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Journal of the Formosan Medical Association |
| spelling | doaj.art-3c6a194a514d46d8a39732b239cae3852022-12-22T00:07:43ZengElsevierJournal of the Formosan Medical Association0929-66462019-03-011183739742Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case reportChih-Ling Chen0Chien-Nan Lee1Ming-Wei Lin2Wen-Wei Hsu3Yi-Yun Tai4Shin-Yu Lin5Department of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanDepartment of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanCorresponding author. Department of Obstetrics and Gynecology, National Taiwan University Hospital, No. 8, Zhongshan South Road, Zhongzheng District, Taipei 10041, Taiwan. Fax: +886 2 23934197.; Department of Obstetrics and Gynecology, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, TaiwanPaternal uniparental disomy 14 (UDP(14)pat) is a rare imprinting disorder with a set of unique neonatal clinical features documented, including craniofacial abnormalities, thoracic and abdominal wall defects, and polyhydraminos. To date, no studies focus on prenatal diagnosis of uniparental disomy have been published. We report a case of a fetus with abnormal ultrasound features at 18 weeks of gestation and normal karyotype result. Subsequent Single nucleotide polymorphism (SNP)-based Affymetrix 750K Microarray analysis revealed the complete loss of heterozygosity for chromosome 14, identifying a case of uniparental disomy. Postmortem examination of the aborted fetus at 21 weeks, coupled with further Affymetrix 750K microarray analysis on the parents, confirmed the diagnosis of parental uniparental disomy for chromosome 14. Keywords: Paternal uniparental disomy 14, Prenatal diagnosis, Uniparental disomyhttp://www.sciencedirect.com/science/article/pii/S092966461830651X |
| spellingShingle | Chih-Ling Chen Chien-Nan Lee Ming-Wei Lin Wen-Wei Hsu Yi-Yun Tai Shin-Yu Lin Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report Journal of the Formosan Medical Association |
| title | Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report |
| title_full | Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report |
| title_fullStr | Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report |
| title_full_unstemmed | Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report |
| title_short | Prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single-nucleotide-polymorphism-based microarray analysis: A case report |
| title_sort | prenatal diagnosis of paternal uniparental disomy for chromosome 14 using a single nucleotide polymorphism based microarray analysis a case report |
| url | http://www.sciencedirect.com/science/article/pii/S092966461830651X |
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