[Sex chromosome aberration with the 48 XYYY karyotype. A case report of the phenotype of a rare sex chromosome aneuploidy].
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.
Stein
A
A
Abteilung für Kinder- und Jugendpsychiatrie am Psychiatrischen Landeskrankenhaus Weinsberg.
Heilbronner
H
H
Jungmann
J
J
D000015:Abnormalities, Multiple / Q000235:genetics / Q000523:psychology; D000328:Adult; D000374:Aggression / Q000523:psychology; D000782:Aneuploidy; D000987:Antisocial Personality Disorder / Q000235:genetics* / Q000523:psychology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000523:psychology; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014998:Y Chromosome
Geschlechtschromosomenaberration mit dem Karyotyp 48, XYYY. Ein Fallbericht zum Phänotyp einer seltenen geschlechtschromosomalen Aneuploidie.