A Probable Case of Incomplete Trisomy of a Chromosome of the 13-15 Group

Dent, Edwards, and Delhanty, I963).The present case probably represents such an incomplete trisomy, where there appears to be an extra chromosome that does not fit readily into any of the accepted groups and in which the clinical picture is not entirely typical of any of the recognized trisomy syndromes.As the recording of detailed cytological and clinical data in such cases may be of value in the elucidation of possible specific effects of different chromosome regions, the following case is presented.Case Report This was the first child of intelligent parents: the father, a machine operator aged 30 years at the birth of the infant, has since died of a coronary thrombosis, and the mother, aged 22 years, is apparently healthy.Pregnancy was uneventful but went i8 days beyond the expected date of delivery before being terminated on July I0, I963, by an artificial rupture of the mem- branes after a medical induction had failed.Forceps extraction of the head was carried out because of foetal distress during the second stage.The male infant (weight 3,I80 g.) breathed almost immediately.He had an imperforate anus and was transferred to the Department of Child Health, Welsh National School of Medicine, at 6 hours.He had a somewhat long and narrow head, with a biparietal diameter of 9-2 cm. and an anterior posterior of I3-5 cm.but a normal circumference (38 cm.).The fontanelles were normal in size and tension.The eyes were small but showed no colobomata and the palpebral fissure sloped downwards and outwards (Fig. i).There was well-marked micrognathos and the ears, both low set,