title: An additional case of 9p syndrome.
abstract: A new case of 9p- syndrome is presented in a 18 months old girl with typical clinical features of the syndrome: marked delay in psychomotor development, muscle hypotonia, trigonocephaly, up-slanting palpebral fissures, short nose with anteverted nostrils, long philtrum, low-set and hypoplastic auricles and others. Using G- and R- banding, the break point was found on the typical place of the chromosome 9-p22 band. The presented case confirms the earlier finding that clinical recognition of the syndrome is of great importance, since small deletions of the short arm of chromosome 9 can be easily overlooked.
mesh_terms: D002871:Chromosome Banding; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D013577:Syndrome