De novo 2q+ masquerading as Smith-Lemli-Opitz syndrome.
We report a female infant diagnosed shortly after birth as having Smith-Lemli-Opitz syndrome. Despite previously reported normal G banded karyotypes, a high resolution banded chromosome analysis identified 46,XX,2q+. The importance of attention to established features of clinical syndromes, as well as persistence in investigation when diagnostic uncertainties exist, are discussed.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002889:Chromosomes, Human, Pair 2; D003937:Diagnosis, Differential; D005260:Female; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D013577:Syndrome