Prenatal diagnosis in Spain.

An overview of the national organisation of prenatal diagnosis (PND) in Spain is presented. Although PND is technically well developed and the number of prenatal services seems to be adequate, the uneven distribution between regions is reflected in a different prevalence reduction of chromosomal disorders and congenital malformations. Only about 41% or pregnant women use PND, with a wide range (14-64%) between regions.

FRAXE mutation analysis in three Spanish families.

Very little is known about the phenotype of FRAXE-positive individuals and the relation between the genotype/phenotype and genotype/ cytogenetic expression. We describe three families with normal and mildly affected individuals and a severely retarded male expressing fragility at the FRAXE locus or presenting different expansions at the CGG FRAXE triplet. In addition, we analyze the FRAXE mutation in sperm DNA from a retarded male carrier with a handicapped daughter expressing fragility at the FRAXE locus.

Molecular analysis of the (CGG)n expansion in the FMR-1 gene in 59 Spanish fragile X syndrome families.

The fragile X mental retardation syndrome is caused by an expansion of a trinucleotide repeat (CGG)n in the FMR-1 gene. Molecular genetic study of fragile X provides accurate diagnosis and facilitates genetic counseling in families with affected members. We present here the molecular study of 59 Spanish fragile X syndrome families using probe StB 12.

Fragile X screening program in a Spanish region.

In a Spanish region with a population of one million, we screened 371 mentally retarded males, who had no previous diagnosis for fragile X [fra(X))] syndrome. Fifty-three of the 371 males were fra(X) positive. Of these 44 of 362 or 12.