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Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome
Author(s) -
Watanabe Satoshi,
Shimizu Kenji,
Ohashi Hirofumi,
Kosaki Rika,
Okamoto Nobuhiko,
Shimojima Keiko,
Yamamoto Toshiyuki,
Chinen Yasutsugu,
Mizuno Seiji,
Dowa Yuri,
Shiomi Natsuko,
Toda Yoshihiro,
Tashiro Katsuya,
Shichijo Koichi,
Minatozaki Kazunori,
Aso Seijiro,
Minagawa Kyoko,
Hiraki Yoko,
Shimokawa Osamu,
Matsumoto Tadashi,
Fukuda Masafumi,
Moriuchi Hiroyuki,
Yoshiura Kohichiro,
Kondoh Tatsuro
Publication year - 2016
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.37496
Subject(s) - chromosomal translocation , karyotype , partial trisomy , trisomy , tetrasomy , genetics , microarray , biology , gene duplication , chromosome , microarray analysis techniques , gene , gene expression
Partial 1q trisomy syndrome is a rare disorder. Because unbalanced chromosomal translocations often occur with 1q trisomy, it is difficult to determine whether patient symptoms are related to 1q trisomy or other chromosomal abnormalities. The present study evaluated genotype–phenotype correlations of 26 cases diagnosed with 1q partial trisomy syndrome. DNA microarray was used to investigate the duplication/triplication region of 16 cases. Although there was no overlapping region common to all 26 cases, the 1q41‐qter region was frequently involved. One case diagnosed as a pure interstitial trisomy of chromosome 1q by G‐banded karyotype analysis was instead found to be a pure partial tetrasomy by CytoScan ® HD Array. In four 1q trisomy syndrome cases involving translocation, the translocated partner chromosome could not be detected by DNA microarray analyzes despite G‐banded karyotype analysis, because there were a limited number of probes available for the partner region. DNA microarray and G‐banded karyotyping techniques were therefore shown to be compensatory diagnostic tools that should be used by clinicians who suspect chromosomal abnormalities. It is important to continue recruiting affected patients and observe and monitor their symptoms to reveal genotype–phenotype correlations and to fully understand their prognosis and identify causal regions of symptoms. © 2016 Wiley Periodicals, Inc.