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Z Kinder Jugendpsychiatr. 1994 Jun;22(2):130-4.

[Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy].

[Article in German]

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  • 1Abteilung für Kinder- und Jugendpsychiatrie am Psychiatrischen Landeskrankenhaus Weinsberg.


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.

[PubMed - indexed for MEDLINE]
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