Autosomal trisomy syndromes: a detailed study of 27 cases of Edwards' syndrome and 27 cases of Patau's syndrome.

The three autosomal trisomy syndromes, which appear to be specific and well documented, are Down's syndrome (trisomy 21), Edwards' syndrome (trisomy 18), and Patau's syndrome (trisomy 1315). Down's syndrome was decribed in 1866 (Down, 1866), and the chromosomal nature of the disorder was demonstrated by Lejeune, Turpin, and Gautier in 1959. The rarer Edwards' and Patau's syndromes were described only in 1960 by Edwards et al. (1960) and Patau et al. (1960). Down's syndrome is well known and will only be discussed where a comparison of the three syndromes is relevant. Since 1960 many cases of Edwards' and Patau's syndromes have been reported: owing to the rarity of the two conditions, most described only one or two cases. Series of cases have been reported by Weiss, DiGeorge, and Baird (1962), Warkany et al. (1964), Taylor and Polani (1964), Giambattista and Jacobson (1965), Butler et al. (1965), Snodgrass et al. (1966), Conen, Erkman, and Metaxotou (1966), and Ricci et al. (1966), and study of these series of cases allows the spectrum of clinical signs of these conditions to be assessed. Data have been collected in a standard fashion in order to assess the clinical overlap between the two syndromes, and to date 54 infants have been studied.