Iris coloboma, ptosis, hypertelorism, and mental retardation: a new syndrome possibly localised on chromosome 2.
A patient with a phenotype resembling that of three children recently reported is described. His karyotype shows a pericentric inversion of chromosome 2, very similar to another child previously reported. We discuss the possibility that all these cases constitute a distinct syndrome.
Pallotta
R
R
Istituto di Pediatria e Ostetricia, Ospedale Pediatrico, Chieti, Italy.
D000015:Abnormalities, Multiple / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002648:Child; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D007446:Chromosome Inversion; D002889:Chromosomes, Human, Pair 2; D003103:Coloboma / Q000235:genetics*; D005260:Female; D006801:Humans; D006972:Hypertelorism / Q000235:genetics*; D007223:Infant; D008607:Intellectual Disability / Q000235:genetics*; D007498:Iris / Q000002:abnormalities*; D008297:Male; D013577:Syndrome