A family with three sisters with the 4p- syndrome, originally reported as suffering from the Smith-Lemli-Opitz syndrome.

The article presents the case study of a family with three sisters with the 4p-syndrome, originally reported as suffering from the Smith-Lemli-Opitz syndrome. The full clinical and pedigree data were documented, and chromosome studies were carried out at two laboratories and considered to be normal. By the time of these further investigations, both maternal grandparents had died. Analysis of the mother's chromosomes was undertaken using actinomycin D to give long chromosomes. It emphasizes the need to review patients and to repeat chromosome studies if techniques have since sufficiently improved.