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Severe pulmonary emphysema in a girl with interstitial deletion of 2q24.2q24.3 including ITGB6

✍ Scribed by Shinichi Takatsuki; Rina Nakamura; Youichi Haga; Kazumasa Mitsui; Takuji Hashimoto; Keiko Shimojima; Tsutomu Saji; Toshiyuki Yamamoto


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
211 KB
Volume
152A
Category
Article
ISSN
1552-4825

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Interstitial deletion of 14q24.3-q32.2 i
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## Abstract Distal interstitial deletions of chromosome 14 involving the 14q24‐q23.2 region are rare, and only been reported so far in 20 patients. Ten of these patients were analyzed both clinically and genetically. Here we present a de novo interstitial deletion of chromosome 14q24.3‐q32.2 in a m

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W e describe a newborn with a novel interstitial deletion of the long arm of chromosome 17 [del (17) (q23.2q24.3)I who died on day of life 17 during a recurrent apneic episode. Her phenotype included severe growth retardation, multiple facial anomalies, maldeveloped oralpharyngeal structures, and di