Digeorge syndrome with total monosomy 22 diagnosed prenatally |
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| Authors: | A. Merino A. De Perdigo Dr. F. Nomballais M. Yyinec P. Lopes |
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| Affiliation: | 1. Laboratoire de Cytogénétique Anténatale, Centre Hospitaliez et Universitaire de Nantes, France;2. Service d'Obstetrique et Gynecologie, Centre Hospitaliez et Universitaire de Nantes, France |
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| Abstract: | 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. |
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| Keywords: | Monosomy 22 DiGeorge syndrome prenatal diagnosis |
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