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Biomedical subjects

U Theile

Publications and source records attributed to U Theile.

At least 37 records · Page 2Linked to original sources
PubMed1978

[Genetic counseling in Sjögren-Larsson syndrome (author's transl)].

Oligophrenia, ichthyosis, and spastic di- or tetraplegia are the main symptoms of Sjögren-Larsson syndrome. Additional findings in some cases are speech defects, seizures, small stature, and changes of the eye. In 1957 the Swedish authors first described this syndrome, untill now there are some 125 cases, on which the diagnosis can be made certainly. Sjögren-Larsson syndrom follows the autosomal recessive mode of inheritance. Therefore genetic counseling seems to be of great value in families with this syndrome.

Genetic Counseling↗
PubMed1977

[Genetic counseling, a contribution to family planning].

Since introduction of oral contraceptives "family planning" is mostly understood as birth control. In contrast the gynecologist and the genetic counselor are often confronted with the desire of proconceptive methods. The counselor has different possibilities in family planning: reduction of the age of reproduction; consideration of "safety interval" between the birth of children: a. in families affected with a hereditary disease with late manifestation, b. after exposition to x-rays, cytotoxic or immunosupressant agents; warning against reproduction in case of high genetic risk and missing of prenatal diagnostic procedures; application of modern diagnostic procedures, i.e. detection of carrier in affected families, i.e. prenatal diagnostics. Genetic counseling is a way to help to plan his family, specially in families affected with hereditary diseases and other risks.

Chromosome Aberrations↗