Transplacental needle passage and other risk-factors associated with second trimester amniocentesis.

Objective: To assess the obstetric outcome of all pregnancies undergoing midtrimester amniocentesis over a 10 year period at one center and the risk-factors for pregnancy loss associated to the procedure.

Material And Method: All 2083 pregnancies with known pregnancy outcome and second trimester amniocentesis were included. Risk-factors for pregnancy loss were analysed by using patients' charts and a special record from the amniocentesis.

Autism associated with marker chromosome.

Six boys who all showed the combination of moderate-severe mental retardation, autistic behavior, and mild-moderate physical stigmatization are described. Muscular hypotonia, epilepsy, and kyphoscoliosis were associated features in several cases, as were extremes of short stature and low weight. A supernumerary chromosome was found in all six cases, and it appears that there may be a separate syndrome associated with partial trisomy of chromosome 15.

A specific translocation, t(12;14)(q14-15;q23-24), characterizes a subgroup of uterine leiomyomas.

We have cytogenetically investigated short-term cultures initiated from 34 uterine leiomyomas, all of which were histologically completely benign. Clonal chromosome abnormalities were detected in five cases, a normal female complement in 22, whereas, in the remaining seven tumors no karyotype could be established. Apparently identical reciprocal translocations, t(12;14)(q14-15;q23-24), were found as the sole abnormality in four tumors.