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Article

Screening for fragile X syndrome in women of reproductive age

1 Jan 2000

Abstract excerpt

We conducted a prospective intervention study of screening for fragile X syndrome in the general population. Antenatal and preconceptional screening were carried out in 9459 women aged between 19 and 44 with no known family history of fragile X syndrome. 80% were tested antenatally. 134 carriers were detected (a frequency of 1 in 70); 130 had a premutation (PM) and 4 had a full mutation (FM). Prenatal diagnosis...

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PMID: 10951469
DOI: 10.1002/1097-0223(200008)20:8<611::aid-pd881>3.0.co;2-m

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