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Page 1
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 duplicati …
Copy-number variations studied were 1q21.1 proximal duplications, 1q21.1 distal deletions and duplications, 15q11.2 deletio …
The Phenotypic variability of 16p11.2 distal BP2-BP3 deletion in a transgenerational family and in neurodevelopmentally ascertained samples.
Woodbury-Smith M, D'Abate L, Stavropoulos DJ, Howe J, Drmic I, Hoang N, Zarrei M, Trost B, Iaboni A, Anagnostou E, Scherer SW. Woodbury-Smith M, et al. J Med Genet. 2023 Nov 27;60(12):1153-1160. doi: 10.1136/jmg-2022-108818. J Med Genet. 2023. PMID: 37290907 Free PMC article.
The third-born male offspring was only noted as having motor deficits and received a diagnosis of developmental coordination disorder. Other than the 16p11.2 distal deletion, no additional contributing variants of clinical significance were observed. . …
The third-born male offspring was only noted as having motor deficits and received a diagnosis of developmental coordination disorder. Other …
Implication of a rare deletion at distal 16p11.2 in schizophrenia.
Guha S, Rees E, Darvasi A, Ivanov D, Ikeda M, Bergen SE, Magnusson PK, Cormican P, Morris D, Gill M, Cichon S, Rosenfeld JA, Lee A, Gregersen PK, Kane JM, Malhotra AK, Rietschel M, Nöthen MM, Degenhardt F, Priebe L, Breuer R, Strohmaier J, Ruderfer DM, Moran JL, Chambert KD, Sanders AR, Shi J, Kendler K, Riley B, O'Neill T, Walsh D, Malhotra D, Corvin A, Purcell S, Sklar P, Iwata N, Hultman CM, Sullivan PF, Sebat J, McCarthy S, Gejman PV, Levinson DF, Owen MJ, O'Donovan MC, Lencz T, Kirov G; Molecular Genetics of Schizophrenia Consortium; Wellcome Trust Case Control Consortium 2. Guha S, et al. JAMA Psychiatry. 2013 Mar;70(3):253-60. doi: 10.1001/2013.jamapsychiatry.71. JAMA Psychiatry. 2013. PMID: 23325106 Free PMC article.
RESULTS: One novel locus was implicated: a deletion at distal 16p11.2, which does not overlap the proximal 16p11.2 locus previously reported in schizophrenia and autism. ...CONCLUSIONS: Deletions at distal 16p11.2 …
RESULTS: One novel locus was implicated: a deletion at distal 16p11.2, which does not overlap the proximal 16 …
Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis.
Sadler B, Haller G, Antunes L, Bledsoe X, Morcuende J, Giampietro P, Raggio C, Miller N, Kidane Y, Wise CA, Amarillo I, Walton N, Seeley M, Johnson D, Jenkins C, Jenkins T, Oetjens M, Tong RS, Druley TE, Dobbs MB, Gurnett CA. Sadler B, et al. J Med Genet. 2019 Jul;56(7):427-433. doi: 10.1136/jmedgenet-2018-105877. Epub 2019 Feb 25. J Med Genet. 2019. PMID: 30803986 Free PMC article.
RESULTS: Distal chromosome 16p11.2 microduplications containing the gene SH2B1 were found in 0.7% of AIS cases (8/1197). ...CONCLUSIONS: Recurrent distal chromosome 16p11.2 duplications explain nearly 1% of AIS. Distal chrom …
RESULTS: Distal chromosome 16p11.2 microduplications containing the gene SH2B1 were found in 0.7% of AIS cases ( …
Prenatally diagnosed 16p11.2 copy number variations by SNP Array: A retrospective case series.
Liu N, Li H, Li M, Gao Y, Yan H. Liu N, et al. Clin Chim Acta. 2023 Jan 1;538:15-21. doi: 10.1016/j.cca.2022.10.016. Epub 2022 Oct 30. Clin Chim Acta. 2023. PMID: 36374846
RESULTS: We indentified 30 fetuses carrying 16p11.2 CNVs, representing 0.35% (30/8578) of prenatal SNP array results. The series included 17 fetuses with a proximal deletion, 7 with a distal deletion, 4 with a proximal duplication, and 2 with a …
RESULTS: We indentified 30 fetuses carrying 16p11.2 CNVs, representing 0.35% (30/8578) of prenatal SNP array results. The seri …
Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options.
Vos N, Kleinendorst L, van der Laan L, van Uhm J, Jansen PR, van Eeghen AM, Maas SM, Mannens MMAM, van Haelst MM. Vos N, et al. Eur J Hum Genet. 2024 Nov;32(11):1387-1401. doi: 10.1038/s41431-024-01601-2. Epub 2024 Apr 11. Eur J Hum Genet. 2024. PMID: 38605127 Free PMC article.
Various copy number variants (CNVs) of the chromosomal 16p11.2 region have been described. Most is known about the 'typical' 16p11.2 BP4-BP5 (29.6-30.2 Mb; ~600 kb) deletions and duplications, but there are also several published cohorts with mo …
Various copy number variants (CNVs) of the chromosomal 16p11.2 region have been described. Most is known about the 'typical' …
The Phenotypic Spectrum of 16p11.2 Recurrent Chromosomal Rearrangements.
Mitrakos AK, Kosma K, Makrythanasis P, Tzetis M. Mitrakos AK, et al. Genes (Basel). 2024 Aug 10;15(8):1053. doi: 10.3390/genes15081053. Genes (Basel). 2024. PMID: 39202413 Free PMC article.
CNVs affecting the 16p11.2 region mainly affect a distal interval of ~220 Kb, between Breakpoints 2 and 3 (BP2-BP3), and a proximal interval of ~593 Kb (BP4-BP5). ...A total of 13 deletions and two duplications were identified, of which eight deleti …
CNVs affecting the 16p11.2 region mainly affect a distal interval of ~220 Kb, between Breakpoints 2 and 3 (BP2-BP3), an …
Transcriptional consequences of 16p11.2 deletion and duplication in mouse cortex and multiplex autism families.
Blumenthal I, Ragavendran A, Erdin S, Klei L, Sugathan A, Guide JR, Manavalan P, Zhou JQ, Wheeler VC, Levin JZ, Ernst C, Roeder K, Devlin B, Gusella JF, Talkowski ME. Blumenthal I, et al. Am J Hum Genet. 2014 Jun 5;94(6):870-83. doi: 10.1016/j.ajhg.2014.05.004. Am J Hum Genet. 2014. PMID: 24906019 Free PMC article.
Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.2 is a common genetic cause of autism spectrum disorder (ASD), yet it is not completely penetrant and can manifest in a wide array of phenotypes. ...One of the most significant positional effects was …
Reciprocal copy-number variation (CNV) of a 593 kb region of 16p11.2 is a common genetic cause of autism spectrum disorder (AS …
Neuropsychological phenotype of a patient with a de novo 970 kb interstitial deletion in the distal 16p11.2 region.
Egger JI, Verhoeven WM, Verbeeck W, de Leeuw N. Egger JI, et al. Neuropsychiatr Dis Treat. 2014 Mar 25;10:513-7. doi: 10.2147/NDT.S58684. eCollection 2014. Neuropsychiatr Dis Treat. 2014. PMID: 24707176 Free PMC article.
These phenotypes are often related to a proximal 16p11.2 deletion of approximately 600 kb (BP4-BP5) that includes the SH2B1 gene that is reported to be causative for morbid obesity. This more centromeric deletion is most strongly related to auti …
These phenotypes are often related to a proximal 16p11.2 deletion of approximately 600 kb (BP4-BP5) that includes the S …
The atypical 16p11.2 deletion: a not so atypical microdeletion syndrome?
Barge-Schaapveld DQ, Maas SM, Polstra A, Knegt LC, Hennekam RC. Barge-Schaapveld DQ, et al. Am J Med Genet A. 2011 May;155A(5):1066-72. doi: 10.1002/ajmg.a.33991. Epub 2011 Apr 4. Am J Med Genet A. 2011. PMID: 21465664
Less frequently reported is a smaller 220 kb deletion, adjacent and distal to this 16p11.2 deletion, which has been referred to as the atypical 16p11.2 deletion (220 kb; 28.74 Mb to 28.95 Mb). ...As it may no longer be so "a …
Less frequently reported is a smaller 220 kb deletion, adjacent and distal to this 16p11.2 deletion, whic …
42 results