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Estimates of penetrance for recurrent pathogenic copy-number variations.
Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Rosenfeld JA, et al. Genet Med. 2013 Jun;15(6):478-81. doi: 10.1038/gim.2012.164. Epub 2012 Dec 20. Genet Med. 2013. PMID: 23258348 Free PMC article.
Copy-number variations studied were 1q21.1 proximal duplications, 1q21.1 distal deletions and duplications, 15q11.2 deletions, 16p13.11 deletions, 16p12.1 deletions, 16p11.2 proximal and distal deletions and duplications, 17q12 …
Copy-number variations studied were 1q21.1 proximal duplications, 1q21.1 distal deletions and duplications, 15q11.2 deletions, …
Epilepsy, EEG and chromosomal rearrangements.
Paprocka J, Coppola A, Cuccurullo C, Stawicka E, Striano P. Paprocka J, et al. Epilepsia Open. 2024 Aug;9(4):1192-1232. doi: 10.1002/epi4.12951. Epub 2024 Jun 4. Epilepsia Open. 2024. PMID: 38837855 Free PMC article. Review.
The comprehensive review concludes with clinical presentations of the most common micro and macro chromosomal rearrangements, such as 17q21.31 microdeletion, 6q terminal deletion, 15q inv dup syndrome, 2q24.4 deletion, Xp11.22-11.23 duplication, 15q13.3 microdeletio …
The comprehensive review concludes with clinical presentations of the most common micro and macro chromosomal rearrangements, such as 17q21. …
16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons.
Buttermore ED, Anderson NC, Chen PF, Makhortova NR, Kim KH, Wafa SMA, Dwyer S, Micozzi JM, Winden KD, Zhang B, Han MJ, Kleiman RJ, Brownstein CA, Sahin M, Gonzalez-Heydrich J. Buttermore ED, et al. Front Psychiatry. 2022 Nov 3;13:924956. doi: 10.3389/fpsyt.2022.924956. eCollection 2022. Front Psychiatry. 2022. PMID: 36405918 Free PMC article.
Patient-derived, induced pluripotent stem cells (iPSCs) provide a platform for investigating the morphological, electrophysiological, and gene-expression changes that result from 16p13.11 CNVs in human-derived neurons. Patient derived iPSCs with varying sizes …
Patient-derived, induced pluripotent stem cells (iPSCs) provide a platform for investigating the morphological, electrophysiological, and …
Neuropathology of 16p13.11 deletion in epilepsy.
Liu JY, Kasperavičiūtė D, Martinian L, Thom M, Sisodiya SM. Liu JY, et al. PLoS One. 2012;7(4):e34813. doi: 10.1371/journal.pone.0034813. Epub 2012 Apr 16. PLoS One. 2012. PMID: 22523559 Free PMC article.
16p13.11 genomic copy number variants are implicated in several neuropsychiatric disorders, such as schizophrenia, autism, mental retardation, ADHD and epilepsy. The mechanisms leading to the diverse clinical manifestations of deletions and duplications at th …
16p13.11 genomic copy number variants are implicated in several neuropsychiatric disorders, such as schizophrenia, autism, men …
Novel findings, mini-review and dysmorphological characterization of 16p13.11 microduplication syndrome.
Arslan AB, Zamani AG, Yıldırım MS. Arslan AB, et al. Int J Dev Neurosci. 2022 Jun;82(4):289-294. doi: 10.1002/jdn.10188. Epub 2022 May 24. Int J Dev Neurosci. 2022. PMID: 35470466 Review.
The short arm of chromosome 16 and especially the region 16p13.11 is a chromosome region where many structural variants, especially deletions and duplications, can be observed. ...Microarray analysis was performed and reported as ([hg19]: 16p13.11 …
The short arm of chromosome 16 and especially the region 16p13.11 is a chromosome region where many structural variants, espec …
Establishment of induced pluripotent stem cells from a patient with 16p13.11 duplication and VPS13B deletion.
Okumura H, Arioka Y, Kushima I, Mori D, Ozaki N. Okumura H, et al. Stem Cell Res. 2022 Oct;64:102884. doi: 10.1016/j.scr.2022.102884. Epub 2022 Aug 3. Stem Cell Res. 2022. PMID: 35944312 Free article.
VPS13B deletion and 16p13.11 duplication are related to mental disorders, such as schizophrenia. ...In this study, we generated induced pluripotent stem cells (iPSCs) from a patient with 16p13.11 duplication and VPS13B deletion. The iPSCs …
VPS13B deletion and 16p13.11 duplication are related to mental disorders, such as schizophrenia. ...In this study, we g …
Prenatal Diagnosis, Ultrasound Findings, and Follow-Up Evaluation of 16p13.11 Deletion and Duplication Syndromes: Preliminary Assessment of Fetal Genotype-Phenotype.
Luo X, Wu L, Song J, Xu J, Huang R, Niu H, Zhou F, Pei Y, Liu W, Wei F. Luo X, et al. J Clin Lab Anal. 2025 Jul;39(13):e70051. doi: 10.1002/jcla.70051. Epub 2025 Jun 19. J Clin Lab Anal. 2025. PMID: 40534548 Free PMC article.
OBJECTIVE: To analyze the ultrasound findings, single nucleotide polymorphism microarray (SNP array) results, pregnancy outcomes, and follow-up information of fetuses with 16p13.11 deletion or duplication. METHODS: This retrospective study collected data from …
OBJECTIVE: To analyze the ultrasound findings, single nucleotide polymorphism microarray (SNP array) results, pregnancy outcomes, and follow …
Clinical phenotype of the 16p.13.11 microdeletion: a case report with a mini review of the literature.
Palumbi R, Ponzi E, Micella S, Pascali M, Bucci R, Gentile M, Margari L, Simone M. Palumbi R, et al. Front Genet. 2024 Aug 16;15:1429185. doi: 10.3389/fgene.2024.1429185. eCollection 2024. Front Genet. 2024. PMID: 39221225 Free PMC article.
BACKGROUND: Chromosome 16p13.11 microdeletion is a very rare copy number variant (CNV), associated with a clinical syndrome characterized by global development delay, neuropsychiatric conditions, facial dysmorphisms, microcephaly, gastroesophageal reflux disease, an …
BACKGROUND: Chromosome 16p13.11 microdeletion is a very rare copy number variant (CNV), associated with a clinical syndrome ch …
FEVR-like Presentation in an 11q Deletion Syndrome and 16p13.11 Microdeletion.
Garcia MD, Ventura CV, Berrocal AM. Garcia MD, et al. J Pediatr Ophthalmol Strabismus. 2017 Nov 17;54:e71-e74. doi: 10.3928/01913913-20170907-03. J Pediatr Ophthalmol Strabismus. 2017. PMID: 29156058
A 7-year-old boy was diagnosed and treated for familial exudative vitreoretinopathy. Genetic testing revealed a 16p13.11 microdeletion and unbalanced translocation causing 11q deletion syndrome. This is the first report describing retinal findings associated …
A 7-year-old boy was diagnosed and treated for familial exudative vitreoretinopathy. Genetic testing revealed a 16p13.11 micro …
Concomitant deletion of chromosome 16p13.11 and triplication of chromosome 19p13.3 in a child with developmental disorders, intellectual disability, and epilepsy.
Tassano E, De Santis LR, Corona MF, Parmigiani S, Zanetti D, Porta S, Gimelli G, Cuoco C. Tassano E, et al. Mol Cytogenet. 2015 Feb 5;8:9. doi: 10.1186/s13039-015-0115-x. eCollection 2015. Mol Cytogenet. 2015. PMID: 25705258 Free PMC article.
RESULTS: Here we describe a patient with epilepsy, mental retardation, developmental disorders, and dysmorphic features, who inherited a deletion of 16p13.11 and a triplication of 19p13.3 from his father and mother, respectively. ...
RESULTS: Here we describe a patient with epilepsy, mental retardation, developmental disorders, and dysmorphic features, who inherited a …
84 results