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.
Download full-text PDF |
Source |
---|
Ann Hum Genet
January 2025
Genetics Service, São João Universitary Hospital Center, Porto, Portugal.
Mol Syndromol
October 2024
Department of Pediatric Genetics, Bilkent City Hospital, University of Health Sciences, Ankara, Turkey.
Cureus
July 2024
Department of Neurology, Institute of Medical Sciences, Banaras Hindu University, Varanasi, IND.
Loeys-Dietz syndrome (LDS) is a very rare connective tissue disorder with autosomal dominant inheritance, characterized by the involvement of the cardiovascular, musculoskeletal, and cutaneous systems, along with dysmorphic facial features. Currently, there are limited data regarding this disease. This case presents a clinical observation of a 17-year-old boy with acute onset of sensorimotor paraparesis and genetically confirmed LDS.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!