Krk is the largest of the Yugoslav islands. On it, due to isolation and consanguineous marriages, certain hereditary diseases such as dwarfism, albinism and a progressive spastic quadriplegia associated with cataracts and mental defect, appear more frequently than in the rest of the population. In this short review, the primary concern is with the first of the disorders. Evidence is presented that Hanhart's dwarfs, as they have been called, have recessively inherited panhypopituitarism.

Adult↗

PubMed1969

[Sex factors].

Explore the source record for details and available documents.

Disorders of Sex Development↗

PubMed1969

[Wiedemann's syndrome].

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Abnormalities, Multiple↗

PubMedDate not supplied

[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. Ethic committees are groups of moral and good people trying to find an objective approach to certain genetic and ethic problems. There are more and more ethically unanswered questions in modern human genetics, and particularly in medical genetics. Medical geneticist-ethicist still encounters numerous problems in his work. These are, for example, experiments with human gametes and embryos, possibilities of hybridization of human gametes with animal gametes, in vitro fertilization, detection of heterozygotes and homozygotes for monogene diseases. early detection of chromosomopathies, substitute mothers, homo and hetero insemination, transplantation of fetal and cadeveric organs, uncontrolled consumption of alcohol and drugs, environmental pollution, etc. It is almost impossible to create a single attitude which shall be shared by all those engaged in human health protection. Therefore, it is best to have a neutral eugenetic attitude which allows free ethical choice of each individual, in any case, for the well-being of man.

Ethics, Medical↗

PubMedDate not supplied

[The usefulness of the chorionic villi technic in prenatal diagnosis].

The chorion frondosum technique was performed, after a pilot study, in 33 early pregnancies (1986-1988). The procedure was carried out between the 8th and the 12th week of pregnancy, and the indications were the gravida's age, chromosomal abnormality in parents and in the child previously born in the family, and sex-linked disease. Out of 33 cultures examined after transcervical CF biopsy, 11 were confirmed also by the findings of early amniocentesis. The method of Siloni et al. was applied to chorion frondosum cells, both by direct and indirect cultivation: 28 of the total of 33 cultures were successful, while 5 failed. Three fetuses, one with balanced translocation and two normal ones, were spontaneously aborted in the first two weeks following the procedure. Three fetuses were aborted due to medical indication, two translocation forms of DS with the mother carrier of t 21/21 and one translocation form of Sy. Patau with the mother having mixoploidy 46; XX/45,XX,t(13q;13q). So far nine children of the predicted kariotype and sex have been born and their development is normal. The course of the remaining pregnancies is also normal, except for one with the spontaneous abortion in the 24th week.

Chorionic Villi Sampling↗

PubMedDate not supplied

[Cardiac insufficiency--a rare major symptom of hypothyroidism in an infant].

A case of hypothyroidism in an infant who was born in an area where screening program was not accepted is presented. The diseases was recognized at the age of 5 months when the infant was admitted to hospital with pericarditis and heart failure - a rare complication in infant hypothyroidism. The possible mechanisms of the heart affection in hypothyroidism are reviewed. The necessity of hypothyroidism screening program is emphasized.

Female↗

PubMedDate not supplied