Prenatal diagnosis of a hypermethylated full fragile X mutation in chorionic villi of a male fetus.

AUTOR(ES)

Suzumori, K

RESUMO

Fragile X syndrome, one of the most common human genetic diseases, is characterised by a unique genetic mechanism which involves dynamic mutation because of a heritable unstable DNA sequence and abnormal DNA methylation. Direct detection of the dynamic mutation and its methylation status at the DNA level would facilitate reliable tests for prenatal and postnatal diagnosis of the disease and for carrier detection. However, it has been suggested that DNA methylation can not be used as the basis for prenatal diagnosis as the CpG island is not always methylated in chorionic villus DNA. We report here a male fetus exhibiting both extensive somatic heterogeneity and abnormal hypermethylation of the full fragile X mutation in chorionic villus DNA as well as in fetal tissue DNA. Our results indicate that both somatic heterogeneity and hypermethylation of the full fragile X mutation are events that are clearly detectable in the 11th to 12th week of pregnancy.

Documentos Relacionados

• Prenatal diagnosis of inv(X)(q12q28) in a male fetus.
• Chorionic Villi Sampling for First Trimester Prenatal Diagnosis
• Ultrasound identification of apparently normal male genitalia in a 46,X,+mar fetus.
• Medical genetics: advances in brief: Detection of full fragile X mutation
• Incomplete X chromosome dosage compensation in chorionic villi of human placenta.