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Co‐occurrence of Prader–Willi and Sotos syndromes
Author(s) -
Okamoto Nobuhiko,
Akimaru Noriko,
Matsuda Keiko,
Suzuki Yasuhiro,
Shimojima Keiko,
Yamamoto Toshiyuki
Publication year - 2010
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.33544
Subject(s) - macrocephaly , sotos syndrome , biology , comparative genomic hybridization , genetics , phenotype , microarray , gene , genome , gene expression
Abstract A patient with atypical phenotypes of Prader–Willi syndrome (PWS) was subjected to investigate genomic copy numbers by microarray‐based comparative genomic hybridization analysis. Severe developmental delay, relative macrocephaly, protruding forehead, cardiac anomalies, and hydronephrosis were atypical for PWS. Concurrent deletions of 15q11‐13 and 5q35 regions were revealed and identified as paternally derived. The sizes and locations of the two deletions were typical for both deletions. Although each deletion independently contributed to the clinical features, developmental disturbance was very severe, suggesting combined effects. This is the first report of co‐occurrence of PWS and STS. The co‐occurrence of two syndromes is likely incidental. © 2010 Wiley‐Liss, Inc.