𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A 2.3 Mb deletion of 17q24.2–q24.3 associated with ‘Carney Complex plus’

✍ Scribed by Moira Blyth; Shuwen Huang; Viv Maloney; John A. Crolla; I. Karen Temple


Book ID
116433130
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
373 KB
Volume
51
Category
Article
ISSN
1769-7212

No coin nor oath required. For personal study only.


📜 SIMILAR VOLUMES


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 👁 2 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