Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.

doi:10.1002/ajmg.a.37496

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Article

Detailed analysis of 26 cases of 1q partial duplication/triplication syndrome.

American journal of medical genetics. Part A - 1 Apr 2016

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 Koh-ichiro, Kondoh Tatsuro

Abstract excerpt

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...

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PMID: 26782913
DOI: 10.1002/ajmg.a.37496

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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