scholarly journals Screening for Mutations in the TBX1 Gene on Chromosome 22q11.2 in Schizophrenia

Genes ◽  
2016 ◽  
Vol 7 (11) ◽  
pp. 102 ◽  
Author(s):  
Lieh-Yung Ping ◽  
Yang-An Chuang ◽  
Shih-Hsin Hsu ◽  
Hsin-Yao Tsai ◽  
Min-Chih Cheng
Keyword(s):  
Tbx1 Gene ◽  
Chromosome 22Q11.2

Sequencing of the coding regions of GNBIL on chromosome 22q11.2 as a risk gene of schizophrenia

2021 ◽  
pp. 113943
Author(s):  
Yu-Yuan Wang ◽  
Shih-Hsin Hsu ◽  
Hsin-Yao Tsai ◽  
Min-Chih Cheng
Keyword(s):  
Coding Regions ◽  
Risk Gene ◽  
Chromosome 22Q11.2

scholarly journals AT-rich repeats associated with chromosome 22q11.2 rearrangement disorders shape human genome architecture on Yq12

2007 ◽  
Vol 17 (4) ◽  
pp. 451-460 ◽  
Author(s):  
M. Babcock ◽  
S. Yatsenko ◽  
P. Stankiewicz ◽  
J. R. Lupski ◽  
B. E. Morrow
Keyword(s):  
Human Genome ◽  
Genome Architecture ◽  
Chromosome 22Q11.2

Chromosome 22q11 deletion in a patient with pulmonary atresia, intact ventricular septum, and confluent branch pulmonary arteries

2017 ◽  
Vol 28 (3) ◽  
pp. 467-470 ◽  
Author(s):  
Varun Aggarwal ◽  
Michaki Imamura ◽  
Carlos Acuna ◽  
Antonio G. Cabrera
Keyword(s):  
Pulmonary Stenosis ◽  
Pulmonary Arteries ◽  
Pulmonary Atresia ◽  
22Q11.2 Deletion Syndrome ◽  
Ventricular Septum ◽  
Deletion Syndrome ◽  
Intact Ventricular Septum ◽  
Chromosome 22Q11 ◽  
Chromosome 22Q11.2 ◽  
22Q11.2 Microdeletion

AbstractIn this study, we report a patient with pulmonary atresia with intact ventricular septum (PA/IVS), confluent pulmonary arteries supplied by an arterial duct, and chromosome 22q11.2 microdeletion. The 22q11.2 deletion syndrome has been associated with anomalies of the outflow tracts, such as tetralogy of Fallot with either pulmonary stenosis or atresia, but we are aware of a solitary case described with pulmonary atresia when the ventricular septum is intact. The presence of genetic malformations can have long-term co-morbidities. By describing our patient, we aim to create awareness of this rare association.

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