J Genet Med.  1998 Dec;2(2):83-86.

DNA Testing for Fragile X Syndrome in School for Emotionally Severely Handicapped Children in Korea

  • 1Department of Psychiatry, Division of Child and Adolescent Psychiatry, Samsung Medical Center, College of Medicine, Sungkyunkwan University, Seoul 135-710, Korea.
  • 2Karam Neuropsychiatry Clinic, Seoul 151-018, Korea.
  • 3Department of Pediatrics, Samsung Medical Center, College of Medicine, Sungkyunkwan University, Seoul 135-710, Korea.


Though Fragile X syndrome is one of the most common inherited causes of mental retardation, it is not much detected yet in Korean population. One of the reason may be that the syndrome is not well known to the special education teachers as well as to the clinicians in this country. Thus, molecular test was undertaken to screen out fragile X syndrome in 122 children of two Korean schools for emotionally severely handicapped children. The subjects were all boys, previously known as having pervasive developmental disorder with or without mental retardation. Southern blot analysis of peripheral blood showed the abnormally enlarged (CGG)n repeat sequence associated with fragile X syndrome in two children. This finding suggests that the DNA testing for fragile X syndrome is warranted for Korean high risk population and that more concern about this syndrome is needed for the professionals who work for mentally handicapped children. The issues involved in genetic counseling for fragile X syndrome are discussed.


fragile X syndrome; DNA screening; pervasive developmental disorder; mental retardation

MeSH Terms

Blotting, Southern
Disabled Children*
Disabled Persons*
Education, Special
Fragile X Syndrome*
Genetic Counseling
Intellectual Disability
Mentally Disabled Persons
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