Duplication 15q11-q13 Syndrome

Autosomal dominant abnormalities of chromosome 15q: features of the chromosome 15q11-q13 duplication syndrome include AUTISM SPECTRUM DISORDER; INTELLECTUAL DISABILITY; ATAXIA, seizures, developmental delays, and behavioral problems. OMIM: 608636. A heterozygous deletion of chromosome 15q11.2 may increase the susceptibility to neuropsychiatric or neurodevelopmental problems, including delayed psychomotor development, speech delay, ATTENTION DEFICIT-HYPERACTIVITY DISORDER; OBSESSIVE-COMPULSIVE DISORDER, and possibly seizures. OMIM: 615656

Also Known As:

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Epilepsy (Aura)

Experts

1.	Chang, Shu-Yuan: 1 article (10/2018)
2.	Chang, Tung-Yao: 1 article (10/2018)
3.	Chen, Chih-Ping: 1 article (10/2018)
4.	Chen, Li-Feng: 1 article (10/2018)
5.	Chen, Shin-Wen: 1 article (10/2018)
6.	Chern, Schu-Rern: 1 article (10/2018)
7.	Chuang, Tzu-Yun: 1 article (10/2018)
8.	Lai, Shih-Ting: 1 article (10/2018)
9.	Town, Dai-Dyi: 1 article (10/2018)
10.	Wang, Liang-Kai: 1 article (10/2018)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Duplication 15q11-q13 Syndrome:

1.	Sodium Channels (Sodium Channel)IBA 01/01/2023 - "Dysfunctional sodium channel kinetics as a novel epilepsy mechanism in chromosome 15q11-q13 duplication syndrome."
2.	Proteins (Proteins, Gene)FDA Link 05/23/2023 - "The 15q11.2 microdeletion region harbors four evolutionarily conserved and non-imprinted protein-coding genes: NIPA1, NIPA2, CYFIP1, and TUBGCP5. "
3.	DNA (Deoxyribonucleic Acid)IBA 10/01/2018 - "Amniocentesis revealed a karyotype of 46,XX. Array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed a 451.89-kb 15q11.2 microdeletion or arr 15q11.2 (22,765,628-23,217,514) × 1.0 [GRCh37 (hg19)] encompassing TUBGCP5, CYFIP1, NIPA2 and NIPA1. "