Naslov
Screening for fragile X syndrome: results from a school for mentally retarded children

Autori
Hećimović, Silva ; Petek Tarnik, Iva ; Barić, Ivo ; Čakarun, Ž. ; Pavelić, Krešimir

Izvornik
Acta Paediatrica (0803-5253) 91 (2002), 5; 535-539

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
CGG triplet repeats; fragile X syndrome; mental retardation; screening

Sažetak
Fragile X screening among mentally retarded children attending a special school should be highly encouraged to reveal the cause of mental retardation and to detect yet unrecognized fragile X individuals. The frequency of fragile X syndrome in a such population in Croatia was found to correlate with similar results from previous studies. However, since at the time of diagnosis all affected families had a second or even a third child born, earlier diagnosis should be considered to provide greater benefit to fragile X families.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti, Kliničke medicinske znanosti

POVEZANOST RADA