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A large interstitial deletion of 17p13.1p11.2 involving the Smith–Magenis chromosome region in a girl with multiple congenital anomalies

✍ Scribed by Toshiyuki Yamamoto; Hideaki Ueda; Motoyoshi Kawataki; Michiko Yamanaka; Toshihide Asou; Yuki Kondoh; Naoki Harada; Naomichi Matsumoto; Kenji Kurosawa

Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
159 KB
Volume
140A
Category
Article
ISSN
1552-4825

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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