A case of Turner syndrome with schizophrenia: Genetic relationship between Turner syndrome and psychosis

Abstract

An 82-year-old woman with Turner syndrome and schizophrenia, and her 46-year-old daughter with schizophrenia are described. 45X/46XX chromosomal mosaicism was identified in the peripheral leukocytes of the mother, who showed several Turner dysmorphisms and cavum septi pellucidum in the brain. She had a normal reproductive life-span. The daughter resembled the mother in terms of schizophrenic symptoms, but she did not show any signs of Turner dysmorphism or chromosomal abnormality. The phenotype-karyotype relationship of Turner syndrome and the genetic relationship with psychosis are discussed.

Mosaic Turner syndrome associated with schizophrenia

“…The risk of schizophrenia is 3 times higher in people with mild learning disability than in the general population and chromosomal abnormalities are increased. In general, TS is found about three times more often in female schizophrenics than in the general female population3,10). Previous researches studying sex chromosome abnormalities in schizophrenic subjects have investigated the role of extra-X chromosome in Klinefelter syndrome (47,XXY) or triple X (47,XXX).…”

“…Psychosis is relatively rare in TS female, but some authors have hypothesized that psychosis can be associated with TS3). No defined psychiatric condition has been traditionally related to TS, and TS is not mentioned in DSM-IV (Diagnostic and Statistical Manual of Mental disorders, 4th edition).…”

Turner syndrome and sexual differentiation of the brain: implications for understanding male-biased neurodevelopmental disorders

“…There may also be an increased risk for schizophrenia. There are several published case reports (Kawanishi et al 1997; Roser and Kawohl 2010) and TS occurs threefold more frequently in schizophrenic females than in the general female population (Prior et al 2000). However, a population-based screening study with sufficient power to detect a relative risk of >2.4 for schizophrenia did not reveal such a relationship (Mors et al 2001).…”

Turner’s syndrome And Obsessive Compulsive Disorder – A Case Report

“…Few sporadic case reports of concomitant TS with schizophrenia are reported worldwide [7,8] . The finding for our TS case gives a clue to possibility of occurrence of OCD.…”