[A bifid uvula in a patient with schizophrenia as a sign of 22q11 deletion syndrome].
A bifid uvula and nasal speech were observed in a 25-year-old woman who was referred because of psychotic complaints. Fluorescence in situ hybridisation (FISH) research for the 22q11 deletion was carried out and the deletion was found. The 22q11-deletion syndrome (22q11DS) is characterised by somatic abnormalities including cardiovascular defects, velopharyngeal anomalies and typical facial characteristics. There is an increasing interest in the cognitive and psychiatric consequences of 22q11DS. There is a high prevalence of learning disabilities and the delayed development of language and speech. Mild mental retardation or borderline intellectual functioning is often reported. A broad range of psychiatric symptoms have been reported; a consistent finding is the development of a psychosis in a considerable proportion of 22q11DS patients from early adulthood onwards. It is important to consider the possibility of 22q11DS in psychiatric patients, as then early intervention strategies for later psychopathological abnormalities are possible, as well as the provision of genetic counselling.
Vorstman
J A S
JA
Afd. Psychiatrie, Zorglijn Schizofrenie, Universitair Medisch Centrum Utrecht, Heidelberglaan 100, 3584 CX Utrecht. j.a.s.vorstman@psych.azu.nl
de Ranitz
A G S
AG
Udink ten Cate
F E A
FE
Beemer
F A
FA
Kahn
R S
RS
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002892:Chromosomes, Human, Pair 22; D003072:Cognition Disorders / Q000235:genetics; D005145:Face / Q000002:abnormalities; D005260:Female; D017353:Gene Deletion; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007859:Learning Disabilities / Q000235:genetics; D012559:Schizophrenia / Q000235:genetics*; D013577:Syndrome; D014609:Uvula / Q000002:abnormalities; D014681:Velopharyngeal Insufficiency / Q000235:genetics