Prevalence of the fragile-X syndrome in mentally retarded boys in a Swedish county

✍ Scribed by Gustavson, Karl-Henrik ;K:son, Hans Blomquist ;Holmgren, Gösta ;Opitz, John M. ;Reynolds, James F.

• Publisher: John Wiley and Sons
• Year: 1986
• Tongue: English
• Weight: 268 KB
• Volume: 23
• Category: Article
• ISSN: 0148-7299
• DOI: 10.1002/ajmg.1320230152

✦ Synopsis

I n an e t i o l o g i c a l s t u d y o f an u n s e l e c t e d s e r i e s o f m e n t a l l y r e t a r d e d c h i l d r e n ( 1 4 < 70) b o r n 1959-1970 i n a

n o r t h e r n Swedish c o u n t y , 12 o f 205 boys (5.9%) were found t o have a f r a g i l e s i t e on t h e d i s t a l end o f t h e C-chromosome ( f r a ( X ) ( q 2 7 ) ) . The i n c i d e n c e o f t h e f r a ( X ) syndrome was c a lc u l a t e d t o be 1:1500 boys i n t h i s c o u n t y . I f t h i s is t r u e for t h e whole o f Sweden, 30-40 new cases o f t h e f r a ( X ) syndrome s h o u l d b e b o r n y e a r l y i n Sweden. This must be cons i d e r e d a m i n i m u m f i g u r e , s i n c e a c e r t a i n p r o p o r t i o n o f i n d iv i d u a l s w i t h f r a ( X ) a r e n o t observed i n groups o f m e n t a l l y r e t a r d e d p a t i e n t s .

N e x t t o t r i s o m y 21, t h e f r a g i l e X syndrome i s t h e most common s p e c i f i c cause o f m e n t a l r e t a r d a t i o n among m e n t a l l y r e t a r d e d boys i n Sweden.