22q11.2 duplication syndrome: Two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes

2005 ◽  
Vol 137A (1) ◽  
pp. 47-51 ◽  
Author(s):  
Marie-France Portnoï ◽  
Fanny Lebas ◽  
Nicolas Gruchy ◽  
Azarnouche Ardalan ◽  
Valérie Biran-Mucignat ◽  
...  
Keyword(s):  
Familial Cases ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

Cardiac evaluation of patients with 22q11.2 duplication syndrome

2020 ◽  
Author(s):  
Adam Butensky ◽  
Chiara Pandolfi Rinaldis ◽  
Shrey Patel ◽  
Sharon Edman ◽  
Alice Bailey ◽  
...  
Keyword(s):  
Cardiac Evaluation ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

scholarly journals Episodic Behavioural Regression in an 8-Year-Old Female: Sequelae of 22q11.2 Duplication Syndrome

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
A. Bahji ◽  
S. Khalid-Khan
Keyword(s):  
Case Reports ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Deletion Syndrome ◽  
Medical Illness ◽  
22Q11.2 Deletion ◽  
Genetic Syndrome ◽  
Potential Risk Factors ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

22q11.2 duplication syndrome is a recently discovered genetic syndrome with unclear neuropsychiatric sequelae. While its connection to 22q11.2 deletion syndrome is actively investigated, case reports on the neuropsychiatric sequelae of affected individuals have been previously described, largely focusing on comorbid autism spectrum disorder. Here, we present the case of an 8-year-old female experiencing episodes of severe behavioural regression following medical illness. We analyze the case and relate it to the available literature and identify potential risk factors.

scholarly journals 22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening

2016 ◽  
Vol 7 (1) ◽  
Author(s):  
Tara L. Wenger ◽  
Judith S. Miller ◽  
Lauren M. DePolo ◽  
Ashley B. de Marchena ◽  
Caitlin C. Clements ◽  
...  
Keyword(s):  
Autism Spectrum Disorder ◽  
Autism Spectrum ◽  
Spectrum Disorder ◽  
Medical Screening ◽  
Elevated Rate ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

Psychotic disorder associated with 22q11.2 duplication syndrome

2016 ◽  
Vol 236 ◽  
pp. 206-207 ◽  
Author(s):  
Therese van Amelsvoort ◽  
Astrid Denayer ◽  
Jacques Boermans ◽  
Ann Swillen
Keyword(s):  
Psychotic Disorder ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

scholarly journals 22q11.2 Duplication Syndrome with Persistent 5th Aortic Arch

2019 ◽  
Vol 35 (4) ◽  
pp. 279-283
Author(s):  
Yusuke Yano ◽  
Takashi Murakami ◽  
Kazuo Imagawa ◽  
Nobuyuki Ishikawa ◽  
Yoshihiro Nozaki ◽  
...  
Keyword(s):  
Aortic Arch ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

scholarly journals Clinical variability of the 22q11.2 duplication syndrome

2008 ◽  
Vol 51 (6) ◽  
pp. 501-510 ◽  
Author(s):  
Christian Wentzel ◽  
Maria Fernström ◽  
Ylva Öhrner ◽  
Göran Annerén ◽  
Ann-Charlotte Thuresson
Keyword(s):  
Clinical Variability ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

scholarly journals Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia

2008 ◽  
Vol 4 (1) ◽  
pp. 10 ◽  
Author(s):  
Anna Brunet ◽  
Lluís Armengol ◽  
Trini Pelaez ◽  
Roser Guillamat ◽  
Vicenç Vallès ◽  
...  
Keyword(s):  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome

scholarly journals Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome

2018 ◽  
Vol 27 (11) ◽  
pp. 1847-1857 ◽  
Author(s):  
Erica Hasten ◽  
Donna M McDonald-McGinn ◽  
Terrence B Crowley ◽  
Elaine Zackai ◽  
Beverly S Emanuel ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Field ◽  
22Q11.2 Duplication Syndrome ◽  
Duplication Syndrome ◽  
Anterior Heart Field
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