Complex cardiac malformation in a case of trisomy 9.
A case of trisomy 9 showing a complex cardiac malformation is presented with a review of other published cases. A distinct trisomy 9 syndrome can be recognised with intrauterine growth retardation, short survival, consistent facial dysmorphism, congenital heart disease, and abnormalities of the skeletal, genital, and renal systems. There is no evidence for a maternal age effect.
D000015:Abnormalities, Multiple / Q000235:genetics; D002906:Chromosomes, Human, 6-12 and X; D005145:Face / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007230:Infant, Low Birth Weight; D007231:Infant, Newborn; D014314:Trisomy