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Page 1
17q12 Recurrent Duplication.
Mefford H. Mefford H. 2016 Feb 25 [updated 2022 Jan 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2016 Feb 25 [updated 2022 Jan 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 26925472 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: The 17q12 recurrent duplication is characterized by intellectual abilities ranging from normal to severe disability and other variable clinical manifestations. ...Surveillance: Regular assessment of psychomotor development is recommended fo …
CLINICAL CHARACTERISTICS: The 17q12 recurrent duplication is characterized by intellectual abilities ranging from normal to se …
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Rasmussen M, Vestergaard EM, Graakjaer J, Petkov Y, Bache I, Fagerberg C, Kibaek M, Svaneby D, Petersen OB, Brasch-Andersen C, Sunde L. Rasmussen M, et al. Am J Med Genet A. 2016 Nov;170(11):2934-2942. doi: 10.1002/ajmg.a.37848. Epub 2016 Jul 13. Am J Med Genet A. 2016. PMID: 27409573 Review.
We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 phenotyped patients with 17q12 duplications. ...Assessing index patients and non-index patients separately, our observations illustrate that an overall milder disea …
We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 phenotyped patients with 17q12 …
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.
The background risk for congenital anomalies/developmental delay/intellectual disability was assumed to be ~5%. Copy-number variations studied were 1q21.1 proximal duplications, 1q21.1 distal deletions and duplications, 15q11.2 deletions, 16p13.11 deletions, 16p12.1 …
The background risk for congenital anomalies/developmental delay/intellectual disability was assumed to be ~5%. Copy-number variations studi …
Choledochal Cyst with 17q12 Chromosomal Duplication.
Kotalova R, Dusatkova P, Drabova J, Elblova L, Dedic T, Cinek O, Lebl J, Pruhova S. Kotalova R, et al. Ann Hum Genet. 2018 Jan;82(1):48-51. doi: 10.1111/ahg.12221. Epub 2017 Sep 22. Ann Hum Genet. 2018. PMID: 28940454
The 17q12 chromosomal region carries the HNF1B gene, mutations of which cause various conditions. When searching for HNF1B/17q12 rearrangements among children with biliary atresia and/or choledochal cysts, we identified a male proband carrying a 17q12 dupl …
The 17q12 chromosomal region carries the HNF1B gene, mutations of which cause various conditions. When searching for HNF1B/17q12 …
Overdosage of HNF1B Gene Associated With Annular Pancreas Detected in Neonate Patients With 17q12 Duplication.
Xiao F, Liu X, Lu Y, Wu B, Liu R, Liu B, Yan K, Chen H, Cheng G, Wang L, Ni Q, Li G, Zhang P, Peng X, Cao Y, Shen C, Wang H, Zhou W. Xiao F, et al. Front Genet. 2021 May 7;12:615072. doi: 10.3389/fgene.2021.615072. eCollection 2021. Front Genet. 2021. PMID: 34025713 Free PMC article.
However, the genetic cause of AP is still unknown, and no study has reported AP in patients with 17q12 duplication. This study retrospectively analyzed the next-generation sequencing (NGS) data of individuals from January 2016 to June 2020 for 17q12 duplic …
However, the genetic cause of AP is still unknown, and no study has reported AP in patients with 17q12 duplication. This study …
Expanding the phenotype associated with 17q12 duplication: case report and review of the literature.
Bierhals T, Maddukuri SB, Kutsche K, Girisha KM. Bierhals T, et al. Am J Med Genet A. 2013 Feb;161A(2):352-9. doi: 10.1002/ajmg.a.35730. Epub 2013 Jan 10. Am J Med Genet A. 2013. PMID: 23307502 Review.
We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case. We also share our thoughts on submicroscopic complexity that may underlie, at least in part, the wide range of phenotypes in patients with 17q12 …
We review all reported cases with 17q12 duplication and discuss the novelty of the phenotype in the present case. We also shar …
A unique coincidence of a 17q12 deletion and duplication in a Czech family led to a refined genotype-phenotype correlation.
Zunova H, Stolfa M, Kunikova T, Novotna D, Valkovicova R, Štěrbová K, Vlckova M. Zunova H, et al. Am J Med Genet A. 2023 Mar;191(3):870-877. doi: 10.1002/ajmg.a.63085. Epub 2022 Dec 22. Am J Med Genet A. 2023. PMID: 36548033
Chromosomal band 17q12 is a gene-rich region flanked by segmental duplications, making the region prone to deletions and duplications via the non-allelic homologous recombination mechanism. ...We present an unusual family with four children carrying the 17 …
Chromosomal band 17q12 is a gene-rich region flanked by segmental duplications, making the region prone to deletions and du …
Complex neuropsychiatric presentation of 17q12 duplication syndrome: A case report.
Das S, Samarasinghe L, Deva S, Fernandez Co EM, Poudel S, Dave T, Prasad S, Sarangi A. Das S, et al. SAGE Open Med Case Rep. 2024 Feb 19;12:2050313X241233184. doi: 10.1177/2050313X241233184. eCollection 2024. SAGE Open Med Case Rep. 2024. PMID: 38379631 Free PMC article.
The chromosomal band 17q12 is characterized by a high density of genes and is bordered by segmental duplications, the structural arrangement of which increases the susceptibility of the region to deletions and duplications. Duplication of 17q12 …
The chromosomal band 17q12 is characterized by a high density of genes and is bordered by segmental duplications, the structur …
Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series.
Zhou CX, Zhu XY, Zhu YJ, Gu LL, He LL, Liu W, Yang Y, Wu X, Duan HL, Ru T, Li J. Zhou CX, et al. Taiwan J Obstet Gynecol. 2021 Mar;60(2):232-237. doi: 10.1016/j.tjog.2021.01.001. Taiwan J Obstet Gynecol. 2021. PMID: 33678321 Free article.
Fetuses with 17q12 duplication presented a wide phenotypic spectrum, including "double bubble" sign, structural anomalies of the heart and growth anomalies. ...Structural anomalies of the heart were newly identified phenotypes of 17q12 duplication duri …
Fetuses with 17q12 duplication presented a wide phenotypic spectrum, including "double bubble" sign, structural anomalies of t …
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M; Epi25 Collaborative; Helbig I, Leu C, Lal D. Montanucci L, et al. Nat Commun. 2023 Jul 20;14(1):4392. doi: 10.1038/s41467-023-39539-6. Nat Commun. 2023. PMID: 37474567 Free PMC article.
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16,109 individuals with clinically validated epilepsy, and 492,324 population controls and identified 25 genome-wide significant loci, 22 of w …
With the hypothesis that seizure disorders share genetic risk factors, we pooled CNV data from 10,590 individuals with seizure disorders, 16 …
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