We present a case which we believe to be the only recorded example of trisomy for the complete short arm of chromosome 5 (Brimblecombe and Lewis, 1966). The trisomic condition is the consequence of unbalanced segregation of a balanced translocation found in the mother and interpreted as 46,XX,t(5; 15) (pl1; p 12). Case historyThe proband, Jennifer K, was born normally at term after an uneventful pregnancy, and weighed 2410 g. There was asymmetry of the face, with coloboma of the iris and microphthalmia affecting the left eye. The left ear was downwardly displaced and malformed, with a flattened helix (Fig. 1). Bilateral talipes equinovarus was present. At the age of 5 weeks a successful operation for pyloric stenosis was undertaken.Her developmental progress was retarded so that by the age of 7 months her performance was that normally achieved by an infant of 2 months, and by the age of 30 months she had attained a developmental age of only 12 months. Her weight gain throughout was poor. She died suddenly at the age of 31 months, the cause of death being bronchopneumonia, which was confirmed at necropsy. The only additional abnormality found at this time was a small corpus callosum.

SUMMARY A second child with trisomy 5p has been born in the kindred reported by Brimblecombe et al.1 The cytogenetic findings were similar to those of the index case except that the derivation was paternal instead of maternal. Improved banding techniques enabled more accurate designation of the breakpoints. The clinical and necropsy findings are described. Three non-specific phenotypic malformations and one brain abnormality, possibly specific, were common to both.Case report The proband (fig 1) was born by lower segment caesarian section for breech presentation and suspected large head to the second wife of a previously identified carrier of a balanced translocation.

No abstract

SUMMARY A total of 287 school leavers with 299 unassociated handicaps from seven special schools for physically handicapped, visually handicapped, and deaf children were given genetic counselling from 1973 to 1979. The practical aspects of running this project are described. The risks needed were those of having an affected child: 54 (18 * 8 %) were given a high risk (greater than 1 in 10), 89 (31 .0%) were given a moderate risk (1 in 10 to 1 in 40), 69 (24 0%) were given a low risk (less than 1 in 40), and 83 (28 5 %) were told that their risk was the same as that of the general population. Of the 299 total handicaps, 25 (8 *4 %) were thought to be autosomal dominant conditions, 38 (12-7%) to be autosomal recessive conditions, and 8 (2 7 %) to be X linked conditions. Empirical risks were given for 145 (48 -5 %) diagnoses, and general population risks for the remaining 83 (27-7%).

No abstract