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An association of 19p13.2 microdeletions with Malan syndrome and Chiari malformation
Author(s) -
Shimojima Keiko,
Okamoto Nobuhiko,
Tamasaki Akiko,
Sangu Noriko,
Shimada Shino,
Yamamoto Toshiyuki
Publication year - 2015
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.36959
Subject(s) - association (psychology) , chiari i malformation , medicine , chiari malformation , anatomy , radiology , magnetic resonance imaging , psychology , syringomyelia , psychotherapist
Patients with microdeletions in the 19p13.2 chromosomal region show developmental delays, overgrowth, and distinctive features with big head appearances. These manifestations are now recognized as Sotos syndrome‐like features (Sotos syndrome 2) or Malan syndrome. We identified three female patients with 19p13.2 deletions involving NFIX , a gene responsible for Malan syndrome. We compared the genotypic and phenotypic data of these patients with those of the patients previously reported. The most of the clinical features were found to overlap; however, Chiari malformation type I was observed in two of the three patients evaluated in this study. Because Chiari malformation type I has never been reported in the patients with NSD1 ‐related Sotos syndrome, this finding indicates the possible role of 19p13.2 deletion in patients with mimicking features of Sotos syndrome but have negative NSD1 testing results. © 2015 Wiley Periodicals, Inc.