The British Journal of Psychiatry 148: 210-212 (1986)
© 1986 The Royal College of Psychiatrists
49, XXXYY chromosome anomaly in a mentally retarded man
VA Cowie, KR Singh and R Wheater
A case of 49, XXXYY chromosome anomaly in an adult male is reported.
Features of Klinefelter's syndrome are predominant among the clinical
findings. Characteristics suggestive of acromegaly have been associated
with this chromosomal anomaly. Despite prognathism and an overhanging brow,
acromegaly was not present in this case. Psychological traits sometimes
reported in males with the XXY and XYY karyotypes were seen in this
patient, but the variability of expression of these characteristics calls
into question the validity of their correlation with the presence of
supernumerary sex chromosomes.