title: Proximal interstitial 6q deletion: a recognizable syndrome.
abstract: We report on an 8-year-old boy with a proximal interstitial deletion of the long arm of chromosome 6 with breakpoints q13 to q14.2. He has a characteristic facial appearance that is seen in several of the previously described cases. Details of his clinical course are reviewed and compared with the nine previous reported cases of the proximal deletion 6q syndrome.
authors.affiliation: Department of Pediatrics and Child Health, University of Manitoba and Children's Hospital, Winnipeg, Canada.
authors.forename: R
authors.initials: R
authors.lastname: Kumar
authors.forename: D
authors.initials: D
authors.lastname: Riordan
authors.forename: A J
authors.initials: AJ
authors.lastname: Dawson
authors.forename: A E
authors.initials: AE
authors.lastname: Chudley
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002648:Child; D002872:Chromosome Deletion; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics* / Q000648:ultrastructure*; D003095:Collagen Diseases / Q000235:genetics; D005145:Face / Q000002:abnormalities*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010641:Phenotype; D013577:Syndrome