Familial syndrome with some features of the Langer-Giedion syndrome, and paracentric inversion of chromosome 8, inv 8 (q11.23----q21.1).
A family is reported with an autosomal dominant inherited syndrome presenting some of the typical features of the tricho-rhino-phalangeal syndrome type II (TRP II) or Langer-Giedion syndrome. The critical region for the expression of the syndrome seems to be at band 8q24.1. In the affected members of the family reported here, anomaly of chromosome 8 was noted, involving however the proximal part of the 8 long arm, which was interpreted as a paracentric inversion. Whether the anomaly is causally or only casually related to the syndrome is a matter of discussion.
D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005799:Genes, Dominant; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008214:Lymphocytes / Q000648:ultrastructure; D008297:Male; D008875:Middle Aged; D008945:Mitral Valve Prolapse / Q000235:genetics; D009666:Nose / Q000002:abnormalities*; D013577:Syndrome