Academic Journal
Paternal uniparental disomy for chromosome 14: prenatal management
| العنوان: | Paternal uniparental disomy for chromosome 14: prenatal management |
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| المؤلفون: | Silva, Joana Isabel Igreja da, Ribeiro, Barbara, Cadilhe, Alexandra, Silva, Cristina Isabel Nogueira |
| بيانات النشر: | BMJ Publishing Group |
| سنة النشر: | 2019 |
| المجموعة: | Universidade of Minho: RepositóriUM |
| مصطلحات موضوعية: | Adult, Amniocentesis, Diagnosis, Differential, Female, Humans, Pregnancy, Pregnancy Trimester, First, Ultrasonography, Prenatal, Uniparental Disomy, Chromosomes, Human, Pair 14, Prenatal Diagnosis, genetic screening / counselling, genetic screening, counselling, Science & Technology |
| الوصف: | We present a case of a 34-year-old multiparous woman who had been diagnosed with a 14 weeks' gestation showing an abdominal wall bulge possibly representing an omphalocele, containing liver and intestinal loops, at her first-trimester ultrasound scan. At 16 weeks' gestation, an amniocentesis was performed and karyotype analysis revealed a balanced Robertsonian translocation between chromosomes 13 and 14 in a female fetus (45,XX,der(13;14)(q10;q10)). Given this result and ultrasound findings, karyotype and molecular study of the couple were suggested. The results pointed out the absence of maternal contribution to the analysed regions by paternal uniparental disomy for chromosome 14 (isodisomy), which is associated with a severe phenotype. The correlation between ultrasound findings and the genetic study is primordial to guide the diagnostic assessment and to establish the prognosis of the fetal pathology. ; (undefined) |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1757-790X |
| Relation: | http://hdl.handle.net/1822/67226 |
| DOI: | 10.1136/bcr-2019-231705 |
| الاتاحة: | http://hdl.handle.net/1822/67226 https://doi.org/10.1136/bcr-2019-231705 |
| Rights: | info:eu-repo/semantics/restrictedAccess |
| رقم الانضمام: | edsbas.DFD8D94D |
| قاعدة البيانات: | BASE |
Full Text Finder | تدمد: | 1757790X |
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| DOI: | 10.1136/bcr-2019-231705 |