title: Digeorge syndrome with total monosomy 22 diagnosed prenatally.
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.
authors.affiliation: Laboratoire de Cytogénétique Anténatale, Centre Hospitaliez et Universitaire de Nantes, France.
authors.forename: A
authors.initials: A
authors.lastname: Merino
authors.forename: A
authors.initials: A
authors.lastname: De Perdigo
authors.forename: F
authors.initials: F
authors.lastname: Nomballais
authors.forename: M
authors.initials: M
authors.lastname: Yvinec
authors.forename: P
authors.initials: P
authors.lastname: Lopes
mesh_terms: D000328:Adult; D002892:Chromosomes, Human, Pair 22; D004062:DiGeorge Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005315:Fetal Diseases / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D009006:Monosomy; D011247:Pregnancy; D016216:Ultrasonography, Prenatal