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

Tan Tiong Yang | Zendy; Bankier Agnes | Zendy; Slater Howard R. | Zendy; Northrop Emma L. | Zendy; Zacharin Margaret | Zendy; Savarirayan Ravi | Zendy

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

Author(s) -

Tan Tiong Yang,

Bankier Agnes,

Slater Howard R.,

Northrop Emma L.,

Zacharin Margaret,

Savarirayan Ravi

Publication year - 2005

Publication title -

american journal of medical genetics part a

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 1.064

H-Index - 112

eISSN - 1552-4833

pISSN - 1552-4825

DOI - 10.1002/ajmg.a.31013

Subject(s) - biology , genetics , monosomy , subtelomere , clone (java method) , phenotype , pathological , steatohepatitis , chromosome , pathology , medicine , gene , disease , karyotype , fatty liver

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. © 2005 Wiley‐Liss, Inc.

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