Partial deletion of chromosome 2 mimicking a phenotype of trisomy 18: case report with autopsy.
Clinical, cytogenetic, and autopsy findings are presented in the case of a liveborn female with multiple congenital anomalies mimicking trisomy 18 phenotype, but with partial deletion of the long arms of chromosome 2, region 2, bands 3 and 4.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002900:Chromosomes, Human, 1-3; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D014314:Trisomy