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Article

A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.

American journal of medical genetics. Part A - 15 Dec 2005

Tan Tiong Yang, Bankier Agnes, Slater Howard R, Northrop Emma L, Zacharin Margaret, Savarirayan Ravi

Abstract excerpt

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...

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Source

Identifiers

PMID: 16278903
DOI: 10.1002/ajmg.a.31013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A patient with monosomy 1p36, atypical features and phenotypic similarities with Cantu syndrome.PMID 16278903Read ↗

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