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Updated: Aug 14, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
Published on: February 21, 2015
A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome
Tiong Yang Tan1, Agnes Bankier, Howard R Slater
1Genetic Health Services Victoria, Royal Children's Hospital, Melbourne, Australia. tiong.tan@ghsv.org.au
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.
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