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Biomedical subjects

K Bosse

Publications and source records attributed to K Bosse.

59 records · Page 4Linked to original sources
PubMedDate not supplied

Unbalanced translocation 8;Y (45,X,dic(Y;8)(q11.23;p23.1)): case report and review of terminal 8p deletions.

A boy with a rare unbalanced de novo Y/autosome translocation is presented. Main clinical features in the boy comprised a psychomotor delay, talipes planus, a dolichocephalus, low set and retroverted ears, supraorbital fullness of subcutaneous tissue and a bulbous nasal tip. Chromosomal analysis on amniocytes showed a single X chromosome and a derivative 8p (Karyotype: 45,X,der(8)GTG). The following DAPI staining revealed the inactivated centromere of the chromosome Y located on 8p and the absence of heterochromatic material Yq. Microsatellite analysis on fetal blood DNA using markers between SRY on Yp and DYS 240 on Yq proved presence of the spermatogenetic relevant factors. A terminal deletion of 8p was confirmed by FISH postnatally. Molecular genetic reassessment revealed the monosomy 8p to be of maternal origin; the translocation can thus be proven to have occurred in the zygote. The breakpoint in 8p was localised distal to GATA4, a gene which is involved in heart development; the finding that our patient did not suffer from cardiac problems agrees with the disomic presence of GATA4. Only the application of FISH combined with microsatellite analysis allowed a precise correlation between clinical phenotype and a subtle deletion of terminal 8p; furthermore, a recurrence risk for the parents could be excluded.

Child↗
PubMedDate not supplied

[Social situation of persons with dermatoses as a phenomena of interpersonal perception (author's transl)].

Discussing the medical importance of the topic, the necessity of cooperation with social-scientific disciplines is demonstrated. Reflecting some relevant psychological theories, an experimental concept for analysing the interpersonal communication with persons suffering from skin-diseases is developed. It is a purpose of this investigation, not only to get the estimations of persons with and without skin-diseases but also the opinion which the other group is supposed to have. It was assumed that the state of health in persons with dermatoses is depending on these supposed estimations by the social environment. After describing the experimental setting, the results which were received from the answers of 465 persons (mean and women with and without dermatoses) are referred. Finally the findings are discussed from different points of view (methodical, cognition-theoretical, learning-psychological, psychoanalytical and last not least medical).

Adult↗