[Warkany syndrome associated with agenesis of the corpus callosum].
Trisomy of chromosome 8 (Warkany syndrome) is a rare chromosomal abnormality associated with retarded psycho-motor development, facial dysmorphism and other structural anomalies. We present a case report of fetal mosaicism of trisomy 8 at 30 weeks of gestation associated with agenesis of the corpus callosum as part of a larger polymalformation sequence.
Markov
D
D
Ivanov
S
S
Popivanova
P
P
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000196:embryology; D061085:Agenesis of Corpus Callosum; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D003337:Corpus Callosum / Q000000981:diagnostic imaging / Q000196:embryology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D038081:Organogenesis / Q000235:genetics*; D011247:Pregnancy; D013577:Syndrome; D014314:Trisomy / Q000235:genetics*; D016216:Ultrasonography, Prenatal