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

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...

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Veröffentlicht in:American journal of medical genetics. Part A 2023-02, Vol.191 (2), p.400-407
Hauptverfasser: Tamura, Takeaki, Yamamoto Shimojima, Keiko, Shiihara, Takashi, Sakazume, Satoru, Okamoto, Nobuhiko, Yagasaki, Hiroshi, Morioka, Ichiro, Kanno, Hitoshi, Yamamoto, Toshiyuki
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Sprache:eng
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