Combined partial trisomy 3p/monosomy 5p resulting in sonographic abnormalities
| Autor: | Sanyukta Runkel, Rolf D. Wegner, Michael Entezami, Alexandra Coumbos, Martin Vogel |
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| Rok vydání: | 2008 |
| Předmět: |
Adult
Polyhydramnios Monosomy medicine.medical_specialty Aneuploidy Chromosome Disorders Trisomy Prenatal diagnosis Chromosomal translocation Translocation Genetic Ultrasonography Prenatal Umbilical Arteries Craniofacial Abnormalities Pregnancy Genetics Humans Medicine Abnormalities Multiple Esophageal Atresia Genetics (clinical) Chromosome Aberrations Fetus business.industry Single umbilical artery Infant Newborn medicine.disease Karyotyping Atresia Chromosomes Human Pair 5 Female Chromosomes Human Pair 3 Radiology business |
| Zdroj: | Clinical Genetics. 52:96-99 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1997.tb02525.x |
| Popis: | We report here a case of partial trisomy of the short arm of chromosome 3 combined with partial monosomy 5p due to malsegregation of a balanced maternal translocation t(3;5). The newborn demonstrated esophageal atresia and complex cerebral malformations. Conspicuous sonographic findings offering the chance of prenatal detection included polyhydramnios without visualization of the stomach, as well as a single umbilical artery. The child died 8 days postpartum. |
| Databáze: | OpenAIRE |
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