Abstract
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.
MeSH terms
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Abnormalities, Multiple / diagnostic imaging
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Abnormalities, Multiple / genetics
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Adult
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Chromosome Aberrations / diagnostic imaging*
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Chromosome Aberrations / genetics
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Chromosome Disorders
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Chromosomes, Human, Pair 3 / genetics*
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Chromosomes, Human, Pair 5 / genetics*
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Craniofacial Abnormalities / diagnostic imaging
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Craniofacial Abnormalities / genetics
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Esophageal Atresia / diagnostic imaging
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Esophageal Atresia / genetics
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Female
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Humans
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Infant, Newborn
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Karyotyping
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Monosomy*
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Polyhydramnios / diagnostic imaging
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Pregnancy
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Translocation, Genetic / genetics
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Trisomy*
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Ultrasonography, Prenatal
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Umbilical Arteries / ultrastructure