Digeorge syndrome with total monosomy 22 diagnosed prenatally
| Autor: | F. Nomballais, A. De Perdigo, A. Merino, M. Yyinec, P. Lopes |
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| Rok vydání: | 1995 |
| Předmět: |
Adult
Pediatrics medicine.medical_specialty Monosomy Chromosomes Human Pair 22 Aneuploidy Prenatal diagnosis Autopsy macromolecular substances Ultrasonography Prenatal Pregnancy DiGeorge syndrome DiGeorge Syndrome medicine Humans Genetics (clinical) Genetics Fetus business.industry Obstetrics and Gynecology medicine.disease Cardiac malformations Fetal Diseases Female business |
| Zdroj: | Prenatal Diagnosis. 15:189-192 |
| ISSN: | 1097-0223 0197-3851 |
| DOI: | 10.1002/pd.1970150215 |
| Popis: | A case of monosomy 22 diagnosed prenatally is reported. During pregnancy, ultrasonic observations already revealed several cardiac malformations of the fetus in the 25th week. Following counselling, the pregnancy was terminated. Fetal autopsy revealed several abnormalities associated with DiGeorge syndrome. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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