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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 …
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. ...RESULTS: A 2.07 Mb interstitial duplication in 22q11.21 and a smaller 182 kb duplication in 22q11.23 were identified in both subjects. ...
BACKGROUND: 22q11.2 microduplication is a relatively recently recognized syndrome. ...RESULTS: A 2.07 Mb interst …
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 …
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 …
Microduplication of 22q11.2 involves having an extra copy at position q11.2 on chromosome 22. ...A prenatal ultr …
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 …
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. ...However, seizures or abnormal EEG are reported in a few cases. We describe a 6-year-old girl with microduplication o …
Chromosome 22q11.2 microduplication syndrome is characterized by a variable and usually mild phenotype and by incomplet …
22q11.2 Microduplication with thyroid hemiagenesis.
Kim HJ, Jo HS, Yoo EG, Chung IH, Kim SW, Lee KH, Chang YH. Kim HJ, et al. Horm Res Paediatr. 2013;79(4):243-9. doi: 10.1159/000346411. Epub 2013 Jan 25. Horm Res Paediatr. 2013. PMID: 23364243
Thyroid anomalies commonly occur in patients with 22q11.2 deletion syndrome, however few reports of thyroid anomalies associated with 22q11.2 microduplication have been published thus far. ...CONCLUSIONS: To our knowledge, this is the first case …
Thyroid anomalies commonly occur in patients with 22q11.2 deletion syndrome, however few reports of thyroid anomalies associat …
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. ...The case resembles a previously published case also showing overgrowth and macrocephaly with an almost identica …
The 22q11.2 microduplication syndrome shows variable phenotypes with reduced penetrance compared to the 22q11. …
22q11.2 microduplication in a family with recurrent fetal congenital heart disease.
Hu P, Ji X, Yang C, Zhang J, Lin Y, Cheng J, Ma D, Cao L, Yi L, Xu Z. Hu P, et al. Eur J Med Genet. 2011 Jul-Aug;54(4):e433-6. doi: 10.1016/j.ejmg.2011.03.009. Epub 2011 Apr 5. Eur J Med Genet. 2011. PMID: 21473936
People carrying a 22q11.2 microduplication display a phenotype varying from normal to severely affected. ...This report demonstrates the remarkable intrafamilial variability of a 22q11.2 microduplication phenotype. The 22q11.2 …
People carrying a 22q11.2 microduplication display a phenotype varying from normal to severely affected. ...This report …
169 results