Follow-up of a patient with partial trisomy 9p and partial monosomy 8p; description of physical and psychosocial development.

A patient is described with partial trisomy 9p and partial monosomy 8p due to a maternal translocation (t(8;9)(p23;p13)). The clinical phenotype is compatible with the partial trisomy 9p syndrome. This is a clinically recognizable syndrome with mental retardation as a constant feature.

Medical examiner data in injury surveillance: a comparison with death certificates.

Increasingly, researchers use medical examiner reports to study the epidemiology of fatal injuries, often assuming that reports of all fatal injuries are included in medical examiner databases. This study evaluated that assumption by comparing the medical examiner database with the death certificates of persons who died of fatal injuries in Iowa during 1990-1991. The authors also examined the association between demographic variables and the presence of a medical examiner report.

[A family with hereditary spherocytosis discovered after an infection with human parvovirus B19].

Hereditary spherocytosis was diagnosed in five of six children in one family after a human parvovirus B19 (B19-virus) infection. The diagnosis was made on the basis of severe anaemia, demonstrable haemolysis, decreased osmotic fragility and an increased number of spherocytes. Since in the serum of the patients an increased level of IgG and IgM antibodies against B19 virus was detectable two weeks after the crisis it was concluded that the B19-virus infection caused the severe anaemia.

Maternal PKU syndrome in an exceptional family with unexpected PKU.

Mild maternal phenylketonuria needs treatment during pregnancy.