Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1993 1
2003 1
2004 1
2005 6
2006 2
2007 6
2008 9
2009 6
2010 7
2011 8
2012 6
2013 14
2014 13
2015 13
2016 11
2017 16
2018 13
2019 18
2020 10
2021 19
2022 14
2023 15
2024 7
2025 2

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

180 results

Results by year

Filters applied: . Clear all
Page 1
22q11.2 duplications: Expanding the clinical presentation.
Bartik LE, Hughes SS, Tracy M, Feldt MM, Zhang L, Arganbright J, Kaye A. Bartik LE, et al. Am J Med Genet A. 2022 Mar;188(3):779-787. doi: 10.1002/ajmg.a.62577. Epub 2021 Nov 29. Am J Med Genet A. 2022. PMID: 34845825
22q11.2 duplication syndrome has a frequency of ~1/700 in the intellectual disability population. ...Although the phenotype and incidence of congenital anomalies are well described for 22q11.2 deletion syndrome, they are not as well understood for indi …
22q11.2 duplication syndrome has a frequency of ~1/700 in the intellectual disability population. ...Although the phenotype an …
Microduplication 22q11.2: a new chromosomal syndrome.
Portnoï MF. Portnoï MF. Eur J Med Genet. 2009 Mar-Jun;52(2-3):88-93. doi: 10.1016/j.ejmg.2009.02.008. Epub 2009 Feb 28. Eur J Med Genet. 2009. PMID: 19254783 Review.
The chromosome 22q11.2 region has long been implicated in genomic diseases. The low-copy repeats spanning the region predispose to homologous recombination events, and mediate nonallelic homologous recombinations that result in rearrangements of 22q11.2 …
The chromosome 22q11.2 region has long been implicated in genomic diseases. The low-copy repeats spanning the region predispos …
Prenatal diagnosis and genetic study of 22q11.2 microduplication in Chinese fetuses: A series of 31 cases and literature review.
Jiang X, Liang B, He S, Wu X, Zhao W, Xue H, Wang Y, Lin N, Huang H, Xu L. Jiang X, et al. Mol Genet Genomic Med. 2024 Jul;12(7):e2498. doi: 10.1002/mgg3.2498. Mol Genet Genomic Med. 2024. PMID: 39031005 Free PMC article. Review.
BACKGROUND: Patients with 22q11.2 microduplication syndrome exhibit a high degree of phenotypic heterogeneity and incomplete penetrance, making prenatal diagnosis challenging due to phenotypic variability. ...METHODS: Family and clinical data of 31 fetuses wi …
BACKGROUND: Patients with 22q11.2 microduplication syndrome exhibit a high degree of phenotypic heterogeneity and incom …
22q11.2 microduplication syndrome and juvenile glaucoma.
Di Matteo F, Bettin P, Ferrari G, Fiori M, Ciampi C, Manfredini E, Rabiolo A, Bandello F. Di Matteo F, et al. Ophthalmic Genet. 2018 Aug;39(4):532-538. doi: 10.1080/13816810.2018.1484926. Epub 2018 Jun 14. Ophthalmic Genet. 2018. PMID: 29902089
BACKGROUND: 22q11.2 microduplication is a relatively recently recognized syndrome. Findings in affected individuals range from apparent normality to a wide variety of systemic and ocular conditions. We describe the association between 22q11.2 …
BACKGROUND: 22q11.2 microduplication is a relatively recently recognized syndrome. Findings in affected individuals ran …
22q11.2 Microduplication: An Enigmatic Genetic Disorder.
Kylat RI. Kylat RI. J Pediatr Genet. 2018 Sep;7(3):138-142. doi: 10.1055/s-0038-1655754. Epub 2018 May 18. J Pediatr Genet. 2018. PMID: 30105124 Free PMC article.
Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. ...A prenatal ultrasound showed severe micrognathia and subsequent microarray done on amniocentesis revealed the microduplication of 22q11.2, wh …
Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. ...A prenatal ultrasound …
Neurodevelopmental functioning in probands and non-proband carriers of 22q11.2 microduplication.
Drmic IE, MacKinnon Modi B, McConnell B, Jilderda S, Hoang N, Noor A, Bassett AS, Speevak M, Stavropoulos DJ, Carter MT. Drmic IE, et al. Am J Med Genet A. 2022 Oct;188(10):2999-3008. doi: 10.1002/ajmg.a.62916. Epub 2022 Jul 28. Am J Med Genet A. 2022. PMID: 35899837
Microduplication of the LCR22-A to LCR22-D region on chromosome 22q11.2 is a recurrent copy number variant found in clinical populations undergoing chromosomal microarray, and at lower frequency in controls. ...To investigate the range of cognitive-behavioral …
Microduplication of the LCR22-A to LCR22-D region on chromosome 22q11.2 is a recurrent copy number variant found in cli …
Atypical 22q11.2 Microduplication with "Typical" Signs and Overgrowth.
Fischer M, Klopocki E. Fischer M, et al. Cytogenet Genome Res. 2020;160(11-12):659-663. doi: 10.1159/000512486. Epub 2021 Jan 20. Cytogenet Genome Res. 2020. PMID: 33472199 Free PMC article.
The 22q11.2 microduplication syndrome shows variable phenotypes with reduced penetrance compared to the 22q11.2 deletion syndrome. ...Array-CGH analysis revealed a 246-kb duplication at the 22q11.2 region. No additional clinically …
The 22q11.2 microduplication syndrome shows variable phenotypes with reduced penetrance compared to the 22q11. …
22q11.2 Microduplication in a patient with 19p13.12-13.13 deletion.
Wang Y, Yu Y, Hu X, Li B, Qian J. Wang Y, et al. Gene. 2014 Mar 1;537(1):164-8. doi: 10.1016/j.gene.2013.11.082. Epub 2013 Dec 17. Gene. 2014. PMID: 24361202
BACKGROUND: The chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes. Here we present a 3-month-old girl with both 22q11.2 microduplication and 19p13.12-13.13 deletion. The presence of both ge …
BACKGROUND: The chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes. Her …
22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature.
Valvo G, Novara F, Brovedani P, Ferrari AR, Guerrini R, Zuffardi O, Sicca F. Valvo G, et al. Epilepsy Behav. 2012 Dec;25(4):567-72. doi: 10.1016/j.yebeh.2012.09.035. Epub 2012 Nov 13. Epilepsy Behav. 2012. PMID: 23159380 Review.
Chromosome 22q11.2 microduplication syndrome is characterized by a variable and usually mild phenotype and by incomplete penetrance. ...We describe a 6-year-old girl with microduplication of chromosome 22q11.2 and epilepsy with continuous …
Chromosome 22q11.2 microduplication syndrome is characterized by a variable and usually mild phenotype and by incomplet …
Distal 22q11.2 Microduplication: Case Report and Review of the Literature.
Pinchefsky E, Laneuville L, Srour M. Pinchefsky E, et al. Child Neurol Open. 2017 Nov 1;4:2329048X17737651. doi: 10.1177/2329048X17737651. eCollection 2017 Jan-Dec. Child Neurol Open. 2017. PMID: 29147671 Free PMC article.
Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. The authors report on a 3-year-old girl with global developmental delay harboring a de novo 1.24 Mb distal chromosome 22q11.2 …
Distal chromosome 22q11.2 microduplications are associated with a wide range of phenotypes and unclear pathogenicity. T …
180 results