title: A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.
abstract: We report on a 16-year-old boy with a distal 1p36 deletion with some clinical features consistent with Cantu syndrome (OMIM#239850). He also has hypercholesterolemia, type II diabetes, recurrent bony fractures, and non-alcoholic steatohepatitis, not previously described in either condition. The 1p36 deletion was detected in a screen of all chromosome subtelomeres using multiplex ligation-dependent probe amplification and was verified using FISH with a region-specific BAC clone. We suggest that patients suspected of having Cantu syndrome, especially those with unusual or more severe manifestations be analyzed for distal 1p36 deletions.
authors.affiliation: Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. tiong.tan@ghsv.org.au
authors.forename: Tiong Yang
authors.initials: TY
authors.lastname: Tan
authors.forename: Agnes
authors.initials: A
authors.lastname: Bankier
authors.forename: Howard R
authors.initials: HR
authors.lastname: Slater
authors.forename: Emma L
authors.initials: EL
authors.lastname: Northrop
authors.forename: Margaret
authors.initials: M
authors.lastname: Zacharin
authors.forename: Ravi
authors.initials: R
authors.lastname: Savarirayan
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D000293:Adolescent; D025063:Chromosome Disorders / Q000235:genetics / Q000473:pathology*; D002878:Chromosomes, Human, Pair 1 / Q000235:genetics*; D005269:Femur / Q000000981:diagnostic imaging; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009006:Monosomy / Q000235:genetics / Q000473:pathology*; D010641:Phenotype; D013902:Radiography, Thoracic; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000000981:diagnostic imaging