FRAXA premutation associated with premature ovarian failure.
A family is described in which six females in three generations experienced premature ovarian failure (POF). In three of them a FRAXA premutation was documented and the carrier status of a fourth female could be inferred, because her son had the fragile X syndrome. These findings provide further evidence for a nonrandom association between POF and the FRAXA premutation.
Vianna-Morgante
A M
AM
Departamento de Biologia, Universidade de São Paulo, Brazil.
Costa
S S
SS
Pares
A S
AS
Verreschi
I T
IT
D000293:Adolescent; D000328:Adult; D004247:DNA / Q000097:blood; D005260:Female; D005600:Fragile X Syndrome / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree; D016649:Primary Ovarian Insufficiency / Q000235:genetics*; D014960:X Chromosome
D004247:DNA