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
Keyword(s):  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion ◽  
Variable Phenotype ◽  
Chromosome 22Q11.2 Microdeletion

Chromosome 22q11.2 Microdeletion Syndrome

2011 ◽  
Vol 30 (5) ◽  
pp. 304-312 ◽  
Author(s):  
Marion G. Molesky
Keyword(s):  
Behavioral Problems ◽  
Digeorge Syndrome ◽  
Multidisciplinary Approach ◽  
Genetic Material ◽  
Chromosome 22 ◽  
Microdeletion Syndrome ◽  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion ◽  
Velo Cardio Facial Syndrome ◽  
Chromosome 22Q11.2 Microdeletion

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.

Tracheobronchial anomalies in chromosome 22q11.2 microdeletion

2006 ◽  
Vol 140A (7) ◽  
pp. 790-793 ◽  
Author(s):  
Maria Francesca Bertolani ◽  
Barbara Maria Bergamini ◽  
Barbara Predieri ◽  
Safieh Mirmassoumi ◽  
Paolo Bertolani ◽  
...  
Keyword(s):  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion ◽  
Chromosome 22Q11.2 Microdeletion

Chromosome 22q11.2 microdeletion in children with conotruncal heart defects: frequency, associated cardiovascular anomalies, and outcome following cardiac surgery

2008 ◽  
Vol 167 (10) ◽  
pp. 1135-1140 ◽  
Author(s):  
Lidia Ziolkowska ◽  
Wanda Kawalec ◽  
Anna Turska-Kmiec ◽  
Malgorzata Krajewska-Walasek ◽  
Grazyna Brzezinska-Rajszys ◽  
...  
Keyword(s):  
Cardiac Surgery ◽  
Heart Defects ◽  
Conotruncal Heart Defects ◽  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion ◽  
Chromosome 22Q11.2 Microdeletion ◽  
Cardiovascular Anomalies

Clinical features of chromosome 22q11.2 microdeletion syndrome in 208 Chilean patients

2009 ◽  
Vol 76 (5) ◽  
pp. 465-470 ◽  
Author(s):  
GM Repetto ◽  
ML Guzmán ◽  
A Puga ◽  
JF Calderón ◽  
CP Astete ◽  
...  
Keyword(s):  
Clinical Features ◽  
Microdeletion Syndrome ◽  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion ◽  
Chromosome 22Q11.2 Microdeletion

Endocrine Manifestations of Chromosome 22q11.2 Microdeletion Syndrome

2005 ◽  
Vol 63 (6) ◽  
pp. 294-299 ◽  
Author(s):  
Jin-Ho Choi ◽  
Young-Lim Shin ◽  
Gu-Hwan Kim ◽  
Eul-Ju Seo ◽  
Youngho Kim ◽  
...  
Keyword(s):  
Microdeletion Syndrome ◽  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion ◽  
Chromosome 22Q11.2 Microdeletion

Influence of Chromosome 22q11.2 Microdeletion on Postoperative Calcium Level After Cardiac-Correction Surgery

2011 ◽  
Vol 32 (7) ◽  
pp. 904-909 ◽  
Author(s):  
Li Shen ◽  
Haitao Gu ◽  
Dongjing Wang ◽  
Chi Yang ◽  
Zhengfeng Xu ◽  
...  
Keyword(s):  
Calcium Level ◽  
Chromosome 22Q11.2 ◽  
Correction Surgery ◽  
22Q11.2 Microdeletion ◽  
Chromosome 22Q11.2 Microdeletion

Chromosome 22q11.2 microdeletion in a patient with hemophilia A

2004 ◽  
Vol 47 (2) ◽  
pp. 181-184 ◽  
Author(s):  
Murat Derbent ◽  
Namık Özbek ◽  
Füsun Alehan ◽  
Zerrin Yılmaz
Keyword(s):  
Hemophilia A ◽  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion ◽  
Chromosome 22Q11.2 Microdeletion
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