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Quoted phrase not found in phrase index: "Chromosome 17q12 duplication syndrome"
Page 1
Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.
Cai M, Guo C, Wang X, Lin M, Xu S, Huang H, Lin N, Xu L. Cai M, et al. Exp Biol Med (Maywood). 2023 May;248(10):858-865. doi: 10.1177/15353702231164933. Epub 2023 May 19. Exp Biol Med (Maywood). 2023. PMID: 37208928 Free PMC article.
Identification of the molecular etiology could provide a basis for prenatal diagnosis, consultation, and prognosis evaluation for MCDK fetuses. We used chromosome microarray analysis (CMA) and whole-exome sequencing (WES) to conduct genetic tests on MCDK fetuses and explor …
Identification of the molecular etiology could provide a basis for prenatal diagnosis, consultation, and prognosis evaluation for MCDK fetus …
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.
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosomal microarray analysis (CMA). ...We here describe a large national cohort of 12 phenotyped patients with 17q12 deletions and 26 ph …
17q12 deletions and duplications are two distinct, recurrent chromosomal aberrations usually diagnosed by chromosoma …
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.
OBJECTIVE: To present the experience on prenatal features of 17q12 microdeletion and microduplication syndromes. MATERIALS AND METHODS: Prenatal chromosomal microarray analysis (CMA) were conducted between January 2015 and December 2018 at a single Chinese te …
OBJECTIVE: To present the experience on prenatal features of 17q12 microdeletion and microduplication syndromes. MATERIALS AND …
Prenatal diagnosis of 17q12 duplication and deletion syndrome in two fetuses with congenital anomalies.
Li R, Fu F, Zhang YL, Li DZ, Liao C. Li R, et al. Taiwan J Obstet Gynecol. 2014 Dec;53(4):579-82. doi: 10.1016/j.tjog.2014.05.004. Taiwan J Obstet Gynecol. 2014. PMID: 25510704 Free article.
Ultimately, the pregnancies were both terminated. RESULTS: CMA detected a 1.56-Mb duplication at 17q12 in Fetus 1 and a 1.93-Mb deletion of 17q12 in Fetus 2. Both the duplicated and deleted regions included the HNF1B and LHX1 genes. Neither the dupl …
Ultimately, the pregnancies were both terminated. RESULTS: CMA detected a 1.56-Mb duplication at 17q12 in Fetus 1 and a 1.93-M …
Chromosome 17q12 duplications: Further delineation of the range of psychiatric and clinical phenotypes.
Kamath A, Linden SC, Evans FM, Hall J, Jose SF, Spillane SA, Hardie ADR, Morgan SM, Pilz DT. Kamath A, et al. Am J Med Genet B Neuropsychiatr Genet. 2018 Jul;177(5):520-528. doi: 10.1002/ajmg.b.32643. Am J Med Genet B Neuropsychiatr Genet. 2018. PMID: 30134084
Copy number variants at chromosome 17q12 have been associated with a spectrum of phenotypes. ...Duplication of 17q12 is emerging as a new genetic syndrome, associated with learning disability, seizures, and behavioral problems. ...
Copy number variants at chromosome 17q12 have been associated with a spectrum of phenotypes. ...Duplication of 17q12 …
Pathogenic recurrent copy number variants in 7,078 pregnancies via chromosomal microarray analysis.
Kang H, Chen Y, Wang L, Gao C, Li X, Hu Y. Kang H, et al. J Perinat Med. 2023 Dec 12;52(2):171-180. doi: 10.1515/jpm-2022-0580. Print 2024 Feb 26. J Perinat Med. 2023. PMID: 38081620
METHODS: A total of 7,078 amniotic fluid samples were collected for chromosome microarray analysis (CMA) and cases carrying pathogenic recurrent CNVs were further studied. ...In total 1.17 % (83/7,078) samples carried pathogenic recurrent CNVs: 20 cases with 22q11.2 recurr …
METHODS: A total of 7,078 amniotic fluid samples were collected for chromosome microarray analysis (CMA) and cases carrying pathogeni …
17q12 Recurrent Deletions and Duplications: Description of a Case Series with Neuropsychiatric Phenotype.
Milone R, Tancredi R, Cosenza A, Ferrari AR, Scalise R, Cioni G, Battini R. Milone R, et al. Genes (Basel). 2021 Oct 21;12(11):1660. doi: 10.3390/genes12111660. Genes (Basel). 2021. PMID: 34828266 Free PMC article.
Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorders associated with visceral developmental disorders, although expressive variability is common. Here we describe a case series of 12 patients …
Among recurrent syndromic imbalances, 17q12 deletions and duplications are characterized by neurodevelopmental disorder …
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 …
Duplications of 17q12 can cause familial fever-related epilepsy syndromes.
Hardies K, Weckhuysen S, Peeters E, Holmgren P, Van Esch H, De Jonghe P, Van Paesschen W, Suls A. Hardies K, et al. Neurology. 2013 Oct 15;81(16):1434-40. doi: 10.1212/WNL.0b013e3182a84163. Epub 2013 Sep 18. Neurology. 2013. PMID: 24049133
OBJECTIVES: After we identified a 17q12 duplication cosegregating in a 4-generation family with genetic or generalized epilepsy with febrile seizures plus (GEFS+), we aimed to determine the frequency of 17q12 genomic rearrangements in GEFS+ and a wide spectru …
OBJECTIVES: After we identified a 17q12 duplication cosegregating in a 4-generation family with genetic or generalized epileps …
Simplifying Detection of Copy-Number Variations in Maturity-Onset Diabetes of the Young.
Berberich AJ, Wang J, Cao H, McIntyre AD, Spaic T, Miller DB, Stock S, Huot C, Stein R, Knoll J, Yang P, Robinson JF, Hegele RA. Berberich AJ, et al. Can J Diabetes. 2021 Feb;45(1):71-77. doi: 10.1016/j.jcjd.2020.06.001. Epub 2020 Jun 8. Can J Diabetes. 2021. PMID: 33011132
Maturity-onset diabetes of the young (MODY) 5 is a subtype of autosomal-dominant diabetes that is often caused by heterozygous deletions involving the HNF1B gene on chromosome 17q12. We evaluated the utility of bioinformatic processing of raw NGS data to detect c …
Maturity-onset diabetes of the young (MODY) 5 is a subtype of autosomal-dominant diabetes that is often caused by heterozygous deletions inv …
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