Five cases of 4p- syndrome, identified by clinical features and chromosomal banding techniques during neonate or infancy period, were presented and the correlation between clinical features and chromosomal loss was discussed. Patients were four females and one male, aged from one day to one year and three months. Common general fe,atures included failure to thrive, growth retardation, mental retardation, low birth weight and muscular hypotonia. Multiple craniofacial anomalies, such as prominent forehead, bow eye-brows, epicanthus were common in all five cases. In four cases, hypertelorism, broad and beaked nose, down-turned mouth and micrognathia were noticed. Microcephaly, asymmetrical skull, low-set and simple ears, anti-mongoloid slant, short philtrum and high-arched or narrow palate were observed in three cases. In the trunk, heart anomaly and sacral dimple were also observed in three cases. The break points of chromosome No. 4 in these cases were p14 in one case, p15 in one case, p16 in two cases and p14 or p15 in one case. These five patients had characteristic clinical features despite of various amount of the chromosomal loss. We could not find out the correlation between the variation or severity of these clinical features and the amount of the chromosomal loss. This suggested that the terminal loss of chromosome No. 4 was the most important in the development of the clinical features of the 4p- syndrome.

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Teratogenic effects of a new non-steroidal anti-inflammatory agent, 6-chloro-5-cyclohexyl-1-indancarboxylic acid (TAI-284) were studied in CF#1 mice by gavage. Indomethacin was used as a reference compound. The results are summarized as follows: 1. When TAI-284 at 10, 30 and 90mg/kg/day or indomethacin at 7.5mg/kg/day were daily given from day 7 to day 15 of gestation, malformations of cervical and thoracic vertebrae and the ribs were induced in the animals treated with 90mg/kg of TAI-284 and (7.5mg/kg of) indomethacin. 2. When the pregnant mice were treated with a single dosing of TAI-284 at 90mg/kg or of indomethacin at 10mg/kg once from day 7 to day 9, the skeletal malformations similar to those induced by the successive treatment as described above were seen in the animals receiving each compoud on day 7 or day 8. 3. Teratogenic effects of other non-steroidal anti-inflammatory agents were reviewed and it was suggested that the skeletal malformation could be induced in mice by an inhibition of the prostaglandin synthesis.

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When ICR-JCLmice were injected ip with 600,000IU/kg of vitamin A on day 10 of gestation (VP day = day 0), all of the fetuses observed at term showed limb malformations. Types of the forelimb malformations in 94 fetuses from 14 litters were rated numerically, and statistically analyzed. An analysis of variance indicated the presence of significant litter effects.

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Amniocentesis was carried out in 161 pregnancies from August, 1971, through September, 1976. The follow-up study of 102 infants upon whose mothers genetic amniocentesis was performed has failed to reveal any abnormalities in psychomotor development. Results of this study were summarized as follows: 1) Three spontaneous abortions (2%) and 4 premature births (3. 8%) occurred following amniocentesis. 2) In one out of 145 pregnancies, vaginal bleeding occurred after amniocentesis, but no other complications were noted. 3) The incidence of low-birth-weight infant, "small-for-gestational age" infant and "large-for-gestational age" infant was 5.8% 3.9% and 2.9%, respectively. 4) The statistics of physical measurements in full-term newborn infants were not different from that found in the general population. The frequency of minor malformations was not appreciably increased. 5) No harmful effects were observed on growth and development up to the age of 3. 6) Congenital abnormalities evident which were not detectable by the amniocentesis procedure were as follows: a case of cerebral palsy, one of congenital heart disease and another of congenital subluxation of the hip. Futher studies are necessary to elucidate the relationship between these congenital abnormalities and amniocentesis. 7) A questionable needle mark was observed in two cases. One child had a 2mm dimple in the upper left arm and another in the right leg. But no neurological abnormality was detected.

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In healthy infants less than six months old the hand dorsum temperature rises just before and during stage REM compared with respective preceding level (immature pattern), whereas in subjects of six months and over it falls just before stage REM and continues to fall during stage REM (adult pattern; Matsumoto et al., 1975). The dynamics of hand dorsum temperature during nocturnal sleep have been studied in severely mentally retarded infants aged 0-5 years (n = 25). All subjects revealed both adult and immature patterns. The adult pattern tended to increase with age from the 0- to the 2-year-old group.

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