Fragile X syndrome prenatal diagnosis: parental attitudes and reproductive responses
M Xunclà, C Badenas, M Domínguez… - Reproductive …, 2010 - Elsevier
Fragile X syndrome (FXS) is the most common inherited form of mental retardation. It is
caused by a CGG repeat expansion, which results in hypermethylation and silencing of the
FMR1 gene. The results from 213 FXS prenatal diagnoses performed in the study centre
were reviewed. Family history of FXS or undiagnosed mental retardation (MR) were the
reasons for referral and 64% of mothers were not aware of their status so prenatal and
mother tests were performed at the same time. Among those women referred for family …
caused by a CGG repeat expansion, which results in hypermethylation and silencing of the
FMR1 gene. The results from 213 FXS prenatal diagnoses performed in the study centre
were reviewed. Family history of FXS or undiagnosed mental retardation (MR) were the
reasons for referral and 64% of mothers were not aware of their status so prenatal and
mother tests were performed at the same time. Among those women referred for family …