Megalocornea-mental retardation syndrome: report of a new case.

Megalocornea-mental retardation syndrome (MMR) is a rare autosomal recessive disorder presenting with megalocornea, mental and motor retardation, hypotonia, seizures, short stature, and characteristic dysmorphic traits (MIM 249310). We present a new case in order to delineate with more accuracy the typical phenotype.

[The genetics of polycystic ovaries].

The clinical characterisation of polycystic ovary syndrome (PCOS) and its fenotype complicate the search for its genetic causes. Still now, there is no concordance about the exact clinical phenotype for PCOS and there is still an open question whether polycystic ovaries are the necessary part of PCOS at all. Therefore, the author suggests to accept and follow Legro's proposal and genetic models in the future investigations of PCOS.

Risk estimates for balanced reciprocal translocation carriers--prenatal diagnosis experience.

An analysis was performed on 40 families at risk for an unbalanced rearrangement in the fetus because one of the parents is a reciprocal translocation carrier. The overall risk at second trimester prenatal diagnosis was 14% (8/57). The individual risk for unbalanced offspring at second trimester prenatal diagnoses and at birth were estimated using empirical data by Stengel-Rutkowski et al.

[Human genetics and ethics].

Many new problems and dilemmas have occurred in the practice of medical geneticists with the development of human genetics and its subdisciplines--molecular genetics, ethic genetics and juridical genetics. Devoid of the possibility to get adequate education, genetic informer or better to say, counsellor, although a scientist and a professional who has already formed his ethic attitudes, often finds himself in a dilemma when he has to decide whether a procedure made possible by progress of science is ethical or not. Thus, due to different attitudes, same decision is ethical for some, while for the others it is not.