Patterns of dysmorphic features in schizophrenia.

Congenital dysmorphic features are prevalent in schizophrenia and may reflect underlying neurodevelopmental abnormalities. A cluster analysis approach delineating patterns of dysmorphic features has been used in genetics to classify individuals into more etiologically homogeneous subgroups. In the present study, this approach was applied to schizophrenia, using a sample with a suspected genetic syndrome as a testable model.

Low platelet count in a 22q11 deletion syndrome subtype of schizophrenia.

Background: 22q11 Deletion Syndrome (22qDS) is a genetic syndrome associated with various physical features and schizophrenia. Some reports have identified thrombocytopenia (platelet count < 150 x 10(9)/l) in individuals with 22qDS, especially children. We investigated whether adults with 22qDS and schizophrenia (22qDS-SZ) have lower platelet counts than other patients with schizophrenia (SZ).

Qualitative MRI findings in adults with 22q11 deletion syndrome and schizophrenia.

Background: A genetic syndrome associated with schizophrenia, 22q11 deletion syndrome (22qDS), may represent a genetic subtype of schizophrenia (22qDS-Sz). Structural brain changes are common in schizophrenia and may involve developmental anomalies, but there are no data yet for 22qDS-Sz. The objective of this study was to assess brain structure in adults with 22qDS-Sz using magnetic resonance imaging (MRI).

22q11 deletion syndrome in adults with schizophrenia.

Genetic syndromes associated with deletions at chromosome 22q11 generally have been diagnosed during childhood based on a constellation of physical features. To investigate a reported association of velocardiofacial syndrome with psychotic disorders in adults, we assessed subjects with DSM-IV schizophrenia or schizoaffective disorder who were referred with two or more syndromal features (palatal, cardiac, facial, or other congenital anomalies, and/or learning difficulties). We report on 10 subjects (5 men and 5 women), mean age 27.

Paternal transmission and anticipation in schizophrenia.

Recent studies have observed anticipation (earlier age at onset (AAO) or increased disease severity in successive generations) in familial schizophrenia. In other disorders, where the molecular mechanism (repeat expansion) is known, anticipation varies in degree depending on the sex of the transmitting parent. We investigated parental sex effects on anticipation in schizophrenia, using a familial sample of affected two-generation pairs in which anticipation had previously been demonstrated using the median intergenerational difference (MID) in AAO.