A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.
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.
Tan
Tiong Yang
TY
Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. tiong.tan@ghsv.org.au
Bankier
Agnes
A
Slater
Howard R
HR
Northrop
Emma L
EL
Zacharin
Margaret
M
Savarirayan
Ravi
R
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