Velocardiofacial syndrome (VCFS) is a congenital disorder characterised by
multiple dysmorphisms, cleft palate, cardiac anomalies, and learning disabi
lities due to a microdeletion of chromosome 22q11.2. Although VCFS is often
associated with psychiatric symptoms, its prevalence among psychiatric pat
ients is unknown.
A total of 326 patients admitted in September and October 1997 to a Japanes
e psychiatric hospital were screened for the clinical features of VCFS. Twe
lve patients with minor facial dysmorphia were identified; chromosomal anal
ysis with fluorescent in situ hybridisation (FISH) was performed in six pat
ients who, further assessment suggested, were most Likely to have VCFS.
Chromosome 22q11.2 deletion was identified in a 41 year old woman who had s
ymptoms of schizophrenia but no major dysmorphia, such as cardiovascular an
omalies and cleft palate. Her behavioural and neuropsychological profiles w
ere similar to those previously reported in VCFS. She was hemizygous for th
e FISH probe N25 (GDB locus D22S75) and also for probes N72H9 (D22S181), sc
11.1a, C443 (D22S931), sc4.1 (D22S134), sc11.1b, N19B3 (D22S264), N122B5 (D
22S934), and N77F7 (D22S939). The size of the deletion was about 3 Mb.
Our patient had only some features of VCFS including a square nasal root, h
ypernasal speech, and hypoparathyroidism. She did, however, have the common
larger deletion of type A. This finding suggests that psychiatric symptoms
in VCFS can occur without major developmental symptoms such as cardiovascu
lar anomalies and cleft palate. Additional patients with schizophrenia may
have subtle features of VCFS which are unrecognised on routine medical exam