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De novo inverted interstitial (“mirror”) duplication of chromosome 8(q13→q24.1) in a liveborn male

✍ Scribed by Donnenfeld, Alan E. ;Coyne, Michael D. ;Beauregard, Laurent J.


Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
314 KB
Volume
35
Category
Article
ISSN
0148-7299

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Unique de novo interstitial deletion of
✍ Levin, Michael L. ;Shaffer, Lisa G. ;Lewis, Richard A. ;Gresik, Mary V. ;Lupski, 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 362 KB 👁 1 views

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