Direct duplication 2p14 to 2p23.
A malformed male newborn was first diagnosed as having Smith-Lemli-Opitz syndrome. Extensive cytogenetic studies, including Q, G, C, R and T banding and BudR treatment, were applied, finally leading the authors to conclude that the patient had a partial 2p trisomy caused by direct duplication 2p14 to 2p23. This was a de novo chromosome abnormality, as both parents had normal karyotypes.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002900:Chromosomes, Human, 1-3; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014314:Trisomy