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De novo 3q22.1 q24 deletion associated with multiple congenital anomalies, growth retardation and intellectual disability

✍ Scribed by Brett, Maggie S.; Ng, Ivy S.L.; Lim, Eileen C.P.; Yong, Min Hwee; Li, Zhihui; Lai, Angeline; Tan, Ene-Choo


Book ID
123585290
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
860 KB
Volume
517
Category
Article
ISSN
0378-1119

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Unique de novo interstitial deletion of
✍ Levin, Michael L. ;Shaffer, Lisa G. ;Lewis, Richard A. ;Gresik, Mary V. ;Lupski, πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 362 KB πŸ‘ 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