1.6 MATERNAL 15Q11-Q13 DUPLICATION SYNDROME WITH ASD: MOOD STABILIZATION BY CARBAMAZEPINE

2019 ◽  
Vol 58 (10) ◽  
pp. S148 ◽  
Author(s):  
Christopher G. Viamontes ◽  
Fedra Najjar ◽  
Edwin H. Cook
Keyword(s):  
Mood Stabilization ◽  
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

Electro-clinical features in epileptic children with chromosome 15q duplication syndrome

2021 ◽  
Vol 132 (5) ◽  
pp. 1126-1137
Author(s):  
M.-T. Dangles ◽  
V. Malan ◽  
G. Dumas ◽  
S. Romana ◽  
O. Raoul ◽  
...  
Keyword(s):  
Clinical Features ◽  
15Q Duplication ◽  
Epileptic Children ◽  
Duplication Syndrome

Multiple-stage correction of caudal duplication syndrome: a case report

2009 ◽  
Vol 44 (12) ◽  
pp. 2410-2413 ◽  
Author(s):  
Hao Liu ◽  
Xiangming Che ◽  
Shufeng Wang ◽  
Gang Chen
Keyword(s):  
Case Report ◽  
Caudal Duplication ◽  
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 New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry

2020 ◽  
Vol 182 (5) ◽  
pp. 1152-1166
Author(s):  
Rebecca M. Pollak ◽  
Michael C. Zinsmeister ◽  
Melissa M. Murphy ◽  
Michael E. Zwick ◽  
Jennifer G. Mulle ◽  
...  
Keyword(s):  
Duplication Syndrome

22q distal duplication syndrome

1989 ◽  
Vol 34 (4) ◽  
pp. 616-616 ◽  
Author(s):  
Horacio Rivera
Keyword(s):  
Duplication Syndrome

Caudal duplication syndrome in an adolescent: Rare concoction of duplication anomalies

2020 ◽  
pp. 004947552097159
Author(s):  
Parul Aggarwal ◽  
Nikhil Nair
Keyword(s):  
Neural Tube ◽  
Case Series ◽  
Late Adolescence ◽  
Lumbosacral Spine ◽  
Unique Case ◽  
Genitourinary System ◽  
Complete Duplication ◽  
Caudal Duplication ◽  
Duplication Syndrome

Caudal duplication syndrome is a rare and interesting entity with a reported prevalence of <1/100,000 births. Caudal duplication syndrome encompasses a diverse spectrum of anomalies primarily involving partial or complete duplication of organs comprising the gastrointestinal, genitourinary and distal neural tube systems. The term ‘caudal duplication syndrome’ was coined by Dominguez et al. in 1993, in a case series of six patients presenting with findings pertaining to duplication anomalies of genitourinary system, hindgut, lumbosacral spine and cord. We here report a unique case of caudal duplication presenting in late adolescence and briefly review the available literature on this rare abnormality.

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