The presence of a 47,XYY karyotype in boys with pervasive developmental disorders (PDDs) has rarely been described in the past. Herein, 2 boys with PDDs and a supernumerary Y chromosome are presented.
Methods:
The case histories of the 2 patients are described along with the results of associated testing. The literature on psychosocial development as well as brain morphology and physiology in males with 47,XYY karyotypes is reviewed.
Results:
Both boys had presentations typical of PDDs, one with autistic disorder and the other with PDD not otherwise specified.
Conclusions:
The finding that, in a clinic for children with developmental disorders, 2 of 40 male referrals had 47,XYY karyotypes suggests that the rate of this sex chromosome anomaly may be increased in PDDs. An extra Y chromosome may be related to abnormal brain development, which may, in turn, predispose vulnerable males to PDDs.
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