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De novo proximal duplication of 1(q12q22) in a female infant with multiple congenital anomalies

โœ Scribed by Jeffrey R. Sawyer; Regina Lichti Binz; Charles M. Swanson; Cynthia Lim


Publisher
John Wiley and Sons
Year
2007
Tongue
English
Weight
179 KB
Volume
143A
Category
Article
ISSN
1552-4825

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Unique de novo interstitial deletion of
โœ Levin, Michael L. ;Shaffer, Lisa G. ;Lewis, Richard A. ;Gresik, Mary V. ;Lupski, ๐Ÿ“‚ Article ๐Ÿ“… 1995 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 362 KB

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