Triple mosaicism 45,XY,--18/46, XY/47,XY,+18.
A patient with symptoms clinically resembling Edwards's syndrome is presented. Cranial asymmetry, thoracic and lumbar hemivertebrae, and an additional rib were the unusual features. The cytogenetic studies revealed the coexistence of three separate cell lines with 45,XY,--18/46,XY/47,XY,+18 complement.
D002902:Chromosomes, Human, 16-18; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D012600:Scoliosis / Q000235:genetics; D012886:Skull / Q000002:abnormalities*; D013131:Spine / Q000002:abnormalities*; D013577:Syndrome