Duplication of the distal segment of 14q

We describe a child with duplication of the distal segment of 14q. Her father carries a balanced translocation between chromosomes 14 and 15. A detailed table compares her clinical findings with those of the seven previously published cases and an additional three new cases in an effort to define a recognizable syndrome. Serum alpha-1 antitrypsin levels and PI typing did not help to localize the alpha-1 antitrypsin gene locus.