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Mosaic r(13) resulting in large deletion of chromosome 13q in a newborn female with multiple congenital anomalies

✍ Scribed by Lorentz, Cindy Pham ;Jalal, Syed M. ;Thompson, Dana M. ;Babovic-Vuksanovic, Dusica


Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
211 KB
Volume
111
Category
Article
ISSN
0148-7299

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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