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Abbravation: Journal of Human Genetics

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Nature Publishing Group

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10.1016/0920-3796(95)90177-9

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1435-232X

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Distal 15q trisomy with DandyWalker malformation

Authors: Atsushi Ieshima Kenzo Takeshita Yukiyoshi Shirasaka Yasuji Nakao Toshiro Kisa
Publish Date: 1985/09
Volume: 30, Issue: 3, Pages: 227-
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Abstract

Thank you for visiting naturecom You are using a browser version with limited support for CSS To obtain the best experience we recommend you use a more up to date browser or turn off compatibility mode in Internet Explorer In the meantime to ensure continued support we are displaying the site without styles and JavaScriptA female infant with distal 15q trisomy and terminal 12q monosomy is reported This is the first oriental case Facial dysmorphism in this case is similar to that of previous cases Additional features are severe brain malformation including DandyWalker malformation and agenesis of the corpus callosum and multiple limb anomalies These features differed from those of previous cases with the trisomy 15q and may be due to terminal 12q monosomy

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