Absent right atrioventricular connection and double-inlet ventricle due to an unbalanced familial 8:13 chromosome translocation: a cautionary tale.

A two-year-old child who had had palliative surgery as a neonate for an absent right atrioventricular connection and double-inlet ventricle was shown to be developmentally retarded. Trisomy for the short arm of chromosome 8 was demonstrated, resulting from a familial 8:13 translocation, with a high risk of recurrence. Although the specific features of this case are unique, it illustrates the importance of chromosome analysis in any dysmorphic infant whose heart defect places prolonged survival in doubt.

Pitfalls of genetic counselling in Pfeiffer's syndrome.

A family with Pfeiffer's syndrome is presented in which members of two generations showed only partial but relevant syndactyly before a child was born, in the third generation, with the full acrocephalosyndactyly syndrome.

Brachydactyly and polydactyly with dermal ridge dissociation and ridge hypoplasia.

A child with brachymesophalangy and postaxial postminimal polydactyly was found also to have dermal ridge dissociation and ridge hypoplasia. She was the second child of unaffected, unrelated parents and was born after a normal pregnancy and delivery. No previous report of a similar combination has been traced.

Deletion 14q and pericentric inversion 14.

A woman with deletion 14q as well as inversion 14 is presented, and physical signs are compared with those of patients with deletion long arm 13. No previous case of deletion long arm 14 has been published.