Rm. Palmour et al., A CONTRIBUTION TO THE DIFFERENTIAL-DIAGNOSIS OF THE GROUP OF SCHIZOPHRENIAS - STRUCTURAL ABNORMALITY OF CHROMOSOME-4, Journal of psychiatry & neuroscience, 19(4), 1994, pp. 270-277
A structural abnormality of chromosome 4 [inv 4 (p15.2; q21.3)] is rep
orted in a male presenting with DSM-III-R schizophrenia, undifferentia
ted type (295.94) and in his mother, who displayed symptoms associated
with schizotypal personality disorder (DSM-III-R 301.22). The proband
had a performance IQ of 91, poor motor coordination, stature in the l
owest quartile and an impaired sense of time. There were no diagnostic
physical or neurological abnormalities. Mild ventricular enlargement
and prominent sulci were found on computed tomography. Both he and his
chromosomally normal father had strabismus which required surgical co
rrection. This case joins the long list of chromosomal abnormalities p
reviously reported to confer an increased risk of mental illness and e
mphasizes the importance of a sophisticated differential diagnosis in
evaluating patients who present with symptoms of schizophrenia. The im
plications for recent initiatives which attempt to localize genes conf
erring susceptibility to schizophrenia and other major mental illnesse
s are discussed.