Abstract
To determine the frequency of chromosomal abnormalities in a child psychiatric
population, and to evaluate possible associations between types of abnormalities
and patient's clinical characteristics, cytogenetic examination was performed on
604 patients. Demographic data, reasons for karyotyping, clinical signs, and
other patient characteristics were assessed and correlated with the results from
karyotyping. Chromosomal abnormalities were found in 69 patients (11.3%); these
were structural in 49 cases and numerical in 20. Inversion of chromosome nine
was found in 15 subjects, trisomy of chromosome 21 in 11, and fragile X in five
patients. When karyotyping was performed because of intellectual impairment or
multiple developmental delay, significantly more abnormalities were found than
average; when performed because autistic disorder was suspected, the number of
abnormalities was significantly fewer. There were no differences in clinical
variables between structural and numerical abnormalities, nor among nine types
of chromosomal abnormalities, except that numerical abnormalities and
polymorphism were found at a later age, and that walking was more delayed and IQ
was lower in patients with Down syndrome. Clinicians should be aware of the
possible presence of chromosomal abnormalities in child psychiatric populations;
the close collaboration with geneticists and the use of more defined guidelines
for cytogenetic investigation are important.