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Article

Interstitial microdeletions of 3q26.2q26.31 in two patients with neurodevelopmental delay and distinctive features.

American journal of medical genetics. Part A - 1 Feb 2023

Tamura Takeaki, Yamamoto Shimojima Keiko, Shiihara Takashi, Sakazume Satoru, Okamoto Nobuhiko, Yagasaki Hiroshi, Morioka Ichiro, Kanno Hitoshi, Yamamoto Toshiyuki

Abstract excerpt

Interstitial microdeletions in the long arm of chromosome 3 are rare. In this study, we identified two patients with approximately 5-Mb overlapping deletions in the 3q26.2q26.31 region. Both patients showed neurodevelopmental delays, congenital heart defects, and distinctive facial features. One of them showed growth deficiency and brain abnormalities, as shown on a magnetic resonance imaging scan....

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PMID: 36345653
DOI: 10.1002/ajmg.a.63034

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