[Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy].Z Kinder Jugendpsychiatr. 1994 Jun; 22(2):130-4.ZK
This is a case report on a 19-year-old patient with the chromosome constellation 48, XYYY. The patient showed signs of dysmorphism, mental retardation and problems in psychosocial functioning. A literature review revealed that individuals with this karyotype have widely varying phenotypes with regard not only to physical signs but also to brain functions and cognitive performance.