Familial Wolf's syndrome with a hidden 4p deletion by translocation of an 8p segment. Unbalanced inheritance from a maternal translocation (4;8)(p15.3;p22). Case report, review and risk estimates.

This is the case report of a patient with Wolf's syndrome having a monosomy 4pter----p15.3 and an additional trisomy 8pter----p22, derived from a maternal balanced translocation t(4;8)(p15.3;p22) after 2:2 disjunction and adjacent-1 segregation. The patient's phenotype is presumably slightly modified by the trisomic 8p segment. Literature analyses indicate that phenotypic "hybrids" with traits of monosomy 4p and of other autosomal segment trisomies exist. The dermatoglyphics of the patient were not highly characteristic for Wolf's syndrome. Also the dermatoglyphics of the balanced translocation carriers were unspecific and did not reflect the carrier status. Pedigree analyses of 46 reported families with reciprocal translocations involving the short arm of chromosome 4 show a high risk (20.5% +/- 4.6%) for unbalanced offspring (trisomy or monosomy 4p) after 2:2 disjunction and adjacent-1 segregation, if the breakpoint in the recipient chromosome is terminal and the resulting imbalance concerns the 4p segment only. It is considerably lower (4.5% +/- 2.5%) if the breakpoint in the recipient chromosome is subterminal, as in the reported case, and the resulting imbalance concerns other chromosome segments additionally to the 4p segment. In both instances, the risk decreases with increasing segment length. The risk for unidentified abortions, stillbirths or neonatal deaths is also high in these families (about 40%). The frequency of progeny with balanced compared to progeny with normal karyotype corresponds to the expected 50% for alternate segregation.

General survey of the causes of death in patients who died postoperatively in pediatric surgery.

The study is based on 427 patients who died between 1949 and 1976 and who were subjected to a post mortem examination. The years 1949 to 1969 (Group A) and the years 1970 to 1976 (Group B) were compared. Following important results were discovered: The underlying disease as a cause of postoperative death was reduced from 18.5% in Group A to 13.3% in Group B. Postoperative deaths secondary to associated malformations increased from 2.5% to 6.1%. Postoperative deaths due to a wrong diagnosis remained constant at 3%. Deaths due to wrong medical treatment decreased from 18% to 5.1%. Deaths due to postoperative infection increased from 17% to 46.2%. The explanation for this change is that modern intensive care keeps many patients alive who formerly died before the onset of infection. Deaths secondary to postoperative shock remained practically constant at 3% and 4% respectively. Deaths due to postoperative pneumonia decreased from 31% in Group A to 13.3% in Group B. The therapy for pneumonia has therefore markedly improved. The largest number of postoperative deaths was found in newborn infants. However, their part in the total numbers of postoperative deaths is definitely becoming smaller. Amongst the newborn infants there was the highest number of postoperative deaths caused by infections.