Prenatal diagnosis of a satellited non-acrocentric chromosome derived from a maternal translocation (10;13)(p13;p12) and review of literature.

We identified a familial balanced translocation involving chromosomes 10 and 13 through the finding of a satellited 10p chromosome in a fetus. The phenotype of two unbalanced products of the translocation resulting in pure monosomy 10p13 and trisomy 10p13 is described. This familial case and two of our unreported cases are discussed in the light of other prenatal observations with satellited non-acrocentric chromosomes reported in the literature.

Molecular analysis of 53 fragile X families with the probe StB12.3.

Fifty-three pedigrees with the fragile X syndrome have been studied for amplification of the CGG repeat sequence adjacent to the CpG island in the FMR1 gene. Probe StB12.3 allowed direct detection of affected males, carrier females, normal transmitting males, as well as prenatal diagnosis.

[What course should be adopted after the discovery of a gonosome anomaly in the fetal karyotype?].

An experience of three centers of genetic counselling (West France). The authors attempts to explain why in 9 cases the pregnancy was not terminated.

[Prenatal diagnosis of genetic diseases. Results of 57 early amniocenteses].

The authors report the results of anmiocenteses carried out early in 57 cases, in order to detect hereditary disorders in high risk pregnancies. They emphasize the necessity of prior genetic consultation and obstetric examination. Among the 57 cases, 53 had the examination carried out in order to seek a chromosome anomaly.