Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males

Authors: Khalifa M.; Struthers J.

Source: Clinical Genetics, Volume 61, Number 1, January 2002 , pp. 49-53(5)

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Abstract:

Khalifa MM, Struthers JL. Klinefelter syndrome is a common cause for mental retardation of unknown etiology among prepubertal males.

Clin Genet 2002: 61: 49–53. © Munksgaard, 2002

Klinefelter syndrome (KS) has not typically been associated with mental retardation (MR), however, in recent years a growing body of evidence suggested that KS boys often experience language deficits and academic difficulties. In this study, we screened DNA samples from 1205 patients originally referred for fragile X syndrome (FRAX) testing, because of MR of unknown etiology and detected 8 KS patients. A similar number of males in the same age group were found to have FRAX; 3 of them had a family history of FRAX. Based on these findings, KS might be the most common cause of MR of unknown etiology among prepubertal males. Because of the significant benefits of early recognition and treatment of KS, we emphasize the importance of cytogenetic testing of all prepubertal males with cognitive impairment even without dysmorphic features.

Keywords: fragile X syndrome; Klinefelter syndrome; mental retardation; developmental delay; sex chromosome aneuploidy

Language: English

Document Type: Original article

Affiliations: 1: Division of Medical Genetics, Departments of Pediatrics and Pathology, Queen's University and Kingston General Hospital, Kingston, Ontario, Canada.

Publication date: 2002-01-01