Premium
22q13 microduplication in two patients with common clinical manifestations: A recognizable syndrome?
Author(s) -
Okamoto Nobuhiko,
Kubota Takeo,
Nakamura Yutaka,
Murakami Ryusuke,
Nishikubo Toshiya,
Tanaka Ichiro,
Takahashi Yukihiro,
Hayashi Shin,
Imoto Issei,
Inazawa Johji,
Hosokai Noboru,
Kohsaka Shinichi,
Uchino Shigeo
Publication year - 2007
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.31771
Subject(s) - hypotonia , gene duplication , comparative genomic hybridization , breakpoint , fluorescence in situ hybridization , subtelomere , microarray , medicine , genetics , chromosomal translocation , segmental duplication , biology , gene , genome , chromosome , gene family , gene expression
We report here on two unrelated patients (Patients 1 and 2) with a cryptic microduplication involving a 22q13 segment. Both patients manifested infantile hypotonia, developmental delay, and growth deficiency. In addition, an abnormal signal intensity area was detected in the frontal white matter of Patient 2 by brain MRI. Whole‐genome microarray comparative genomic hybridization for Patient 1 and fluorescence in situ hybridization analysis with 22q‐subtelomeric probes performed in both patients showed a submicroscopic 22q13 duplication that involved the SHANK3 gene. The duplication in Patient 1 was de novo type, while that in Patient 2 was derived from a familial 17;22 translocation. The presence of common clinical manifestations in the two patients with the common duplicated region led to a conclusion that 22q terminal duplication is a recognizable clinical entity, that is, the 22q13 microduplication syndrome. © 2007 Wiley‐Liss, Inc.