No abstract

Mosaic tetrasomy 12p is a dysmorphic syndrome which has been described under the name of Pallister mosaic syndrome and Teschler‐Nicola/Killian syndrome and has sometimes been incorrectly interpreted as tetrasomy 21. Here we report the first case to be diagnosed prenatally and confirmed by enzyme assays, and we summarize the clinical and biological characteristics of all the cases reported so far under various names.

No abstract

This study is concerned with the pattern of inheritance of susceptibility to rheumatic fever. To investigate the genetic mechanism of inheritance in rheumatic fever the families of a selected parent were brought under observation without regard for the presence or absence of rheumatic fever in the unselected mate or collateral relatives. These data are preferable for genetic analysis since they are not biased by selection of affected children and can therefore be analysed directly by the application of simple Mendelian ratios. Two hundred ninety-one families including 646 siblings were under continuous medical supervision at The New York Hospital for an average period of 10 years. Rheumatic fever occurred in 40 children among a total of 121 offspring in 52 genetically susceptible families. By contrast in 239 nonsusceptible families with a total of 525 children, there were only three children who developed rheumatic fever. Genetic analysis of the data gave good agreement with simple recessive inheritance while excluding other mechanisms. The previous conclusion that susceptibility to rheumatic fever is inherited as a simple recessive trait was corroborated.