scholarly journals A survey of seizures and current treatments in 15q duplication syndrome

Epilepsia ◽  
2014 ◽  
Vol 55 (3) ◽  
pp. 396-402 ◽  
Author(s):  
Kerry D. Conant ◽  
Brenda Finucane ◽  
Nicole Cleary ◽  
Ashley Martin ◽  
Candace Muss ◽  
...  
Keyword(s):  
15Q Duplication ◽  
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

scholarly journals Transcriptome profiling of white adipose tissue in a mouse model for 15q duplication syndrome

Genomics Data ◽  
2015 ◽  
Vol 5 ◽  
pp. 394-396 ◽  
Author(s):  
Xiaoxi Liu ◽  
Kota Tamada ◽  
Rui Kishimoto ◽  
Hiroko Okubo ◽  
Satoko Ise ◽  
...  
Keyword(s):  
Adipose Tissue ◽  
Mouse Model ◽  
White Adipose Tissue ◽  
Transcriptome Profiling ◽  
15Q Duplication ◽  
Duplication Syndrome

Gastrointestinal problems in 15q duplication syndrome

2015 ◽  
Vol 58 (3) ◽  
pp. 191-193 ◽  
Author(s):  
Elias A. Shaaya ◽  
Sarah F. Pollack ◽  
Susana Boronat ◽  
Shelby Davis-Cooper ◽  
Garrett C. Zella ◽  
...  
Keyword(s):  
15Q Duplication ◽  
Gastrointestinal Problems ◽  
Duplication Syndrome

scholarly journals The Importance of Classical and Molecular Cytogenetics in the Diagnosis of Microdeletions Microduplications Syndromes

2020 ◽  
Vol 71 (5) ◽  
pp. 373-379
Author(s):  
Cristina Annemarie Popa ◽  
Maria Puiu ◽  
Nicoleta Ioana Andreescu ◽  
Daniel Popa ◽  
George Puenea ◽  
...  
Keyword(s):  
Trisomy 21 ◽  
Digeorge Syndrome ◽  
Chromosomal Abnormalities ◽  
Genetic Material ◽  
Deletion Syndrome ◽  
15Q Duplication ◽  
Cytogenetic Technique ◽  
Duplication Syndrome ◽  
Double Aneuploidy

Microdeletions and microduplications syndromes are a well defined group of disorders characterized by loss/ addition of less than 5 Mb of genetic material undetectable by simple karyotype and a particular phenotype. Our study presents the results of investigations of classical and molecular cytogenetic (FISH, Fluorescence in situ Hibridization) in 70 children showing different phenotypic manifestations, such as multiple congenital anomalies, dysmorphic appearance, mental retardation, obesity. After performing classical cytogenetic technique of the 70 cases, in four girls there were diagnosed two visible structural chromosomal abnormalities: DiGeorge syndrome, Distal 18q Deletion syndrome, 15q Duplication syndrome, izocromosome Xq and one boy with 11q24-qter deletion and 38 numerical aberrations were identified: 33 cases of trisomy 21, two cases of monosomy X, two cases of poly Y syndrome and one double aneuploidy, trisomy 21 and poly Y. Using FISH (Fluorescence in situ Hibridization) technique in all the 32 cases, another 5 cases were diagnosed with Prader-Willi syndrome, one with the following: Angelman syndrome, Williams syndrome and 15q Duplication Syndrome, two DiGeorge syndrome, one Jacobsen syndrome, 11q 23-qter deletion and one double aneuploidy. In our study, the efficacy of the classical cytogenetic technique in confirmation of the cases suspected by chromosome abnormality was 61.4% and the FISH technique, was 37,5%.In our study, using both methods of diagnosis, we obtained confirmation of the genetic etiology in only 72.85% of the cases.

scholarly journals Mosaic embryo diagnosis correlated with abnormal 15q duplication syndrome in offspring

2019 ◽  
Vol 112 (3) ◽  
pp. e241-e242
Author(s):  
Emily L. Mounts ◽  
Shihui Olive Zhu ◽  
Rebecca K. Sanderson ◽  
Alison Coates ◽  
John S. Hesla
Keyword(s):  
15Q Duplication ◽  
Mosaic Embryo ◽  
Duplication Syndrome

scholarly journals Neuron-specific impairment of inter-chromosomal pairing and transcription in a novel model of human 15q-duplication syndrome

2011 ◽  
Vol 20 (19) ◽  
pp. 3798-3810 ◽  
Author(s):  
Makiko Meguro-Horike ◽  
Dag H. Yasui ◽  
Weston Powell ◽  
Diane I. Schroeder ◽  
Mitsuo Oshimura ◽  
...  
Keyword(s):  
15Q Duplication ◽  
Chromosomal Pairing ◽  
Novel Model ◽  
Duplication Syndrome

scholarly journals 15q Duplication Syndrome: Report on the First Patient from Ecuador with an Unusual Clinical Presentation

2021 ◽  
Vol 2021 ◽  
pp. 1-9
Author(s):  
Esteban Ortiz-Prado ◽  
Ana Lucía Iturralde ◽  
Katherine Simbaña-Rivera ◽  
Lenin Gómez-Barreno ◽  
Iván Hidalgo ◽  
...  
Keyword(s):  
Clinical Presentation ◽  
Clinical Phenotype ◽  
Gene Methylation ◽  
Extra Copy ◽  
15Q Duplication ◽  
Patient Reported ◽  
Interstitial Duplication ◽  
Genetical Material ◽  
Duplication Syndrome ◽  
Syndrome Report

Background. The 15q11.1-13.1 duplication, also known as Dup15q syndrome, is a rare congenital disease affecting 1 in 30,000 to 1 in 60,000 children worldwide. This condition is characterized by the presence of at least one extra copy of genetical material within the Prader-Willi/Angelman Critical Region (PWACR) of the referred 15q11.2-q13.1 chromosome. Case Report. Our study presents the clinical and genetical features of the first patient with a denovo 15q11.2 interstitial duplication on the maternal allele (inv Dup15q) that mimics a milder Prader-Willi syndrome probably due to an atypical disruption of the SNHG14 gene. Methylation-specific MLPA analysis has confirmed the presence of a very unlikely duplication that lies between breakpoint 1 (BP1) and the middle of BP2 and BP3 (BP3). This atypical alteration might be linked to the milder patient’s clinical phenotype. Conclusions. This is the first Dup15q patient reported in Ecuador and of the very few in South America. This aberration has never been described in a patient with Dup15q, and the unusual clinical presentation is probably due to the atypical distal breakpoint occurring within the gene SNHG14 which lies between BP2 and BP3 and does not therefore contain the whole PWACR. If the duplication disrupted the gene, then it is possible that it is the cause of, or contributing to, the patient’s clinical phenotype.

scholarly journals Mosaic 15q duplication syndrome (tetrasomy 15q11.1-q13.2) in a child with behavior disorders: case report

2019 ◽  
Vol 41 (1) ◽  
pp. 93-95
Author(s):  
Maurício A. Rodrigues ◽  
Laura de F. Dias ◽  
Renata V. Moreira ◽  
Patrícia D. Ribeiro
Keyword(s):  
Case Report ◽  
Behavior Disorders ◽  
15Q Duplication ◽  
Duplication Syndrome

scholarly journals Decreased Exploratory Activity in a Mouse Model of 15q Duplication Syndrome; Implications for Disturbance of Serotonin Signaling

PLoS ONE ◽  
2010 ◽  
Vol 5 (12) ◽  
pp. e15126 ◽  
Author(s):  
Kota Tamada ◽  
Shozo Tomonaga ◽  
Fumiyuki Hatanaka ◽  
Nobuhiro Nakai ◽  
Keizo Takao ◽  
...  
Keyword(s):  
Mouse Model ◽  
Exploratory Activity ◽  
15Q Duplication ◽  
Serotonin Signaling ◽  
Duplication Syndrome
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