Chromosome deletion and multiple cartilaginous exostoses.
We report a 13 year-old girl with manifestations strikingly reminiscent of the tricho-rhino-phalangeal (TRP) II or Langer-Giedion syndrome. A terminal deletion of 8q must be assumed to be the cause of her condition till proven otherwise. A similar chromosome abnormality should be searched for (blindly) in other cases of the TRP II previously thought to have had normal chromosomes.
D000293:Adolescent; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005097:Exostoses, Multiple Hereditary / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007621:Karyotyping; D008831:Microcephaly / Q000235:genetics; D013577:Syndrome