We describe a family with two half-brothers affected with severe mental retardation. The phenotype in the affected individuals is characterized by apparent acromegaly, profound mental retardation, and hyperactivity. The mother has analogous but less severe facial anomalies and mild mental impairment. Screening for fra(X) (q) was negative in peripheral lymphocytes using methotrexate for fra(X) enhancement. The clinical findings in our patients are similar to those described by Fryns et al. [1986] in two patients with acquired lesions of the central nervous system. CT investigations in one of our patients showed areas of hyperdensity in the pontine region and a small subarachnoid cyst. The pedigree suggests X-linked inheritance. The association of apparent acromegaly, CNS anomalies, megalotestes, and mental retardation in this family supports the hypothesis that a distinct syndrome may exist with phenotype anomalies more severe than those characteristic for the Martin-Bell syndrome but without fragile X.

Abnormalities, Multiple↗

PubMedDate not supplied

[Transabdominal chorionic villi aspiration in the 1st and 2d trimester in 120 cases with reference to placental location].

At the Gynecological Clinic of the Klinikum Ludwigshafen prenatal transabdominal diagnostic aspiration of villi was performed in 120 cases in the first and second trimesters between October 1986 and April 1988. The puncture was performed using a cannula system comprising a guide and an aspiration needle. The ultrasonographically controlled removal technique is described with special consideration of the procedure in cases with placental insertion in the posterior wall. Successful tissue removal (at least 5 mg of tissue) was achieved in 97.5% of the cases. Cytogenetic, biochemical, and molecular biologic studies were performed. The most frequent indication was to detect chromosome disorders in older mothers (74.2%). Such disorders were diagnosed in 4.2% of all cases and pregnancy was terminated in seven of them; the indications were aneuploidies, metabolic disease, or severe developmental anomalies detected by ultrasonography in normal karyotypes. In the remaining 113 pregnancies one miscarriage was seen nine weeks after aspiration of villi. On the basis of these results the abortion risk following transabdominal chorionic biopsy is 0.88% and is thus similar to that following amniocentesis.

Abortion, Eugenic↗