title: Ring chromosome 17. Case report and review of the literature.
abstract: A 46,XX,r(17) karyotype was observed in a 9-year-old infant with short stature, moderate mental retardation but without other physical abnormality. Eight cases with an r(17) have since been reported: 4 can be compared with our patient, one was detected by amniocentesis, and 3 have Miller-Dieker syndrome. Submicroscopic deletions in the subband p13.3 are probably the cause of Miller-Dieker syndrome. They are present in some cases of r(17) but, in others, this short arm region is entirely preserved.
authors.affiliation: Laboratoire Central d'Hématologie et de Cytogénétique, Hôpital Edouard-Herriot, Lyon, France.
authors.forename: M
authors.initials: M
authors.lastname: Teyssier
authors.forename: C
authors.initials: C
authors.lastname: Charrin
authors.forename: G
authors.initials: G
authors.lastname: Corgiolu Theuil
authors.forename: L
authors.initials: L
authors.lastname: David
mesh_terms: D002648:Child; D002886:Chromosomes, Human, Pair 17; D002658:Developmental Disabilities / Q000235:genetics*; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007621:Karyotyping; D012303:Ring Chromosomes; D013577:Syndrome