Prenatal diagnosis of trisomy for the distal two-thirds of the long arm of chromosome 14 (q21→qter)
Autor: | P. McKeever, E. Roberts, I. D. Young, D. P. Duckett |
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Rok vydání: | 1990 |
Předmět: |
Adult
medicine.medical_specialty Aneuploidy Trisomy Prenatal diagnosis Pregnancy Prenatal Diagnosis Gene duplication medicine Humans Genetics (clinical) Chromosomes Human Pair 14 Gynecology medicine.diagnostic_test business.industry Genetic Diseases Inborn Cytogenetics Obstetrics and Gynecology Chromosome medicine.disease In utero Amniocentesis Female business |
Zdroj: | Prenatal Diagnosis. 10:261-264 |
ISSN: | 1097-0223 0197-3851 |
Popis: | A de novo case of 'pure' trisomy 14q21----qter is described which was detected at amniocentesis following an abnormal ultrasound scan of a 25-year-old woman. This is apparently the largest distal 14q duplication reported in a case surviving beyond the first trimester. The infant appeared to have an association of clinical abnormalities previously observed in distal 14q trisomy and proximal 14q trisomy/mosaic trisomy 14. |
Databáze: | OpenAIRE |
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