Variable phenotype and associations in chromosome 22q11.2 microdeletion

2006 ◽  
Vol 140A (6) ◽  
pp. 659-660 ◽  
Author(s):  
Murat Derbent ◽  
Yunus Emre Bikmaz ◽  
Zerrin Yilmaz ◽  
Kursad Tokel
2011 ◽  
Vol 30 (5) ◽  
pp. 304-312 ◽  
Author(s):  
Marion G. Molesky

Chromosome 22q11.2 microdeletion syndrome is the most common microdeletion syndrome in humans. It involves the loss of genetic material on the short arm of one of the chromosome 22 alleles. Until advanced testing was available, this syndrome was known by various names including DiGeorge syndrome and velo-cardio-facial syndrome. This syndrome has a varied presentation with significant abnormalities including congenital heart disease, hypocalcemia, immunologic deficiencies, learning disabilities, and behavioral problems. A multidisciplinary approach is required to diagnose and manage the varied manifestations.


2006 ◽  
Vol 140A (7) ◽  
pp. 790-793 ◽  
Author(s):  
Maria Francesca Bertolani ◽  
Barbara Maria Bergamini ◽  
Barbara Predieri ◽  
Safieh Mirmassoumi ◽  
Paolo Bertolani ◽  
...  

2008 ◽  
Vol 167 (10) ◽  
pp. 1135-1140 ◽  
Author(s):  
Lidia Ziolkowska ◽  
Wanda Kawalec ◽  
Anna Turska-Kmiec ◽  
Malgorzata Krajewska-Walasek ◽  
Grazyna Brzezinska-Rajszys ◽  
...  

2009 ◽  
Vol 76 (5) ◽  
pp. 465-470 ◽  
Author(s):  
GM Repetto ◽  
ML Guzmán ◽  
A Puga ◽  
JF Calderón ◽  
CP Astete ◽  
...  

2005 ◽  
Vol 63 (6) ◽  
pp. 294-299 ◽  
Author(s):  
Jin-Ho Choi ◽  
Young-Lim Shin ◽  
Gu-Hwan Kim ◽  
Eul-Ju Seo ◽  
Youngho Kim ◽  
...  

2011 ◽  
Vol 32 (7) ◽  
pp. 904-909 ◽  
Author(s):  
Li Shen ◽  
Haitao Gu ◽  
Dongjing Wang ◽  
Chi Yang ◽  
Zhengfeng Xu ◽  
...  

2004 ◽  
Vol 47 (2) ◽  
pp. 181-184 ◽  
Author(s):  
Murat Derbent ◽  
Namık Özbek ◽  
Füsun Alehan ◽  
Zerrin Yılmaz

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