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113 results

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Page 1
Interstitial duplication of 20q11.22q13.11: A case report and review of literature.
Goetzinger L, Starks RD, Dillahunt K, Major H, Nagy JM, Sidhu A. Goetzinger L, et al. Mol Genet Genomic Med. 2021 Aug;9(8):e1755. doi: 10.1002/mgg3.1755. Epub 2021 Jul 16. Mol Genet Genomic Med. 2021. PMID: 34268909 Free PMC article. Review.
BACKGROUND: Reports of interstitial duplication of chromosome 20q11 are rare with only nine published patients to date. ...CONCLUSION: We report an 8-year-old girl with a 9.1 Mb interstitial duplication of chromosome 20q11.22q13.11. Our observations suggest t …
BACKGROUND: Reports of interstitial duplication of chromosome 20q11 are rare with only nine published patients to date. ...CONCLUSION …
A 22q13.1 duplication in mosaicism including SOX10.
Bertani-Torres W, Serey-Gaut M, de Oliveira J, Bole C, Parisot M, Nistschké P, Maurin ML, Lapierre JM, Loundon N, Belhous K, Bondurand N, Marlin S, Pingault V. Bertani-Torres W, et al. Am J Med Genet A. 2023 Dec;191(12):2813-2818. doi: 10.1002/ajmg.a.63362. Epub 2023 Aug 2. Am J Med Genet A. 2023. PMID: 37533297
Here, we report a patient initially diagnosed with WS2 who exhibits a 446 kb mosaic duplication in chromosome 22q13.1, encompassing SOX10, and detected using whole genome sequencing in a trio. ...Moderate congenital chronic constipation and neurodevelopmental diffic …
Here, we report a patient initially diagnosed with WS2 who exhibits a 446 kb mosaic duplication in chromosome 22q13.1, encompa …
Molecular cytogenetic and phenotypic characterization of Phelan McDermid and 22q13 duplication syndrome: a case report.
Khalifa Y, Hassan HY, Weise A, Liehr T, Alkhayyat H. Khalifa Y, et al. Mol Cytogenet. 2022 Dec 17;15(1):52. doi: 10.1186/s13039-022-00629-7. Mol Cytogenet. 2022. PMID: 36528601 Free PMC article.
CASE PRESENTATION: In a postnatal case with hypotonia and dysmorphic features a de novo ring chromosome r(22) leading to in parallel microdeletion and micro duplication in 22q13 was diagnosed by banding cytogenetics, and further characterized in detail by molecular …
CASE PRESENTATION: In a postnatal case with hypotonia and dysmorphic features a de novo ring chromosome r(22) leading to in parallel microde …
Genotype-phenotype correlation of 16p13.3 terminal duplication and 22q13.33 deletion: Natural history of a patient and review of the literature.
Fontes MI, Santos AP, Molck MC, Simioni M, Nascimento DL, Andrade AK, Rosenberg C, Krepischi AC, Appenzeller S, Monlleó IL, Gil-da-Silva-Lopes VL. Fontes MI, et al. Am J Med Genet A. 2016 Mar;170(3):766-72. doi: 10.1002/ajmg.a.37494. Epub 2015 Dec 7. Am J Med Genet A. 2016. PMID: 26638882 Review.
This article reports a patient with a de novo 9.32 Mb duplication at 16p13.3 and a 71 Kb deletion at 22q13.33. The patient was followed from 1 month old to 3 years and 8 months of age and presented typical features of the 16p13.3 duplication syndrome. ...
This article reports a patient with a de novo 9.32 Mb duplication at 16p13.3 and a 71 Kb deletion at 22q13.33. The patient was …
A 22q13.33 duplication harbouring the SHANK3 gene: does it cause neuropsychiatric disorders?
Johannessen M, Haugen IB, Bakken TL, Braaten Ø. Johannessen M, et al. BMJ Case Rep. 2019 Nov 2;12(11):e228258. doi: 10.1136/bcr-2018-228258. BMJ Case Rep. 2019. PMID: 31678916 Free PMC article.
A young man with neuropsychiatric problems has a small 22q13.33 duplication. We suggest this causes his condition. His disorder may represent a 22q13.33 behavioural phenotype. ...The small size helps focus on a critical region for a 22q13.33 duplica
A young man with neuropsychiatric problems has a small 22q13.33 duplication. We suggest this causes his condition. His disorde …
Mitochondrial disease in 22q13 duplication syndrome.
Frye RE. Frye RE. J Child Neurol. 2012 Jul;27(7):942-9. doi: 10.1177/0883073811429858. Epub 2012 Feb 28. J Child Neurol. 2012. PMID: 22378673
Both copy number changes in the 22q13 region and mitochondrial disease have been associated with autism spectrum disorder. In this report, for the first time, a girl with autism spectrum disorder is described who exhibits both mitochondrial disease and a 22q13.1-33 …
Both copy number changes in the 22q13 region and mitochondrial disease have been associated with autism spectrum disorder. In this re …
22q13.32 deletion and duplication and inversion in the same family: a rare occurrence.
Jafri F, Fink J, Higgins RR, Tervo R. Jafri F, et al. ISRN Pediatr. 2011;2011:829825. doi: 10.5402/2011/829825. Epub 2011 Jun 21. ISRN Pediatr. 2011. PMID: 22389789 Free PMC article.
Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same chromosome is a rare occurrence. The presence of both abnormalities in the same family has never been reported, to our knowledge. We report a …
Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same c …
Interstitial duplication of 22q13.2 in a girl with short stature, impaired speech and language, and dysmorphism.
Samanich J, Montagna C, Morrow BE, Babcock M. Samanich J, et al. J Pediatr Genet. 2012 Mar;1(1):47-53. doi: 10.3233/PGE-2012-009. J Pediatr Genet. 2012. PMID: 27625801 Free PMC article.
The majority of reported patients have terminal duplications, with only three previous reports of interstitial duplication of the region. Herein we report a young woman with a de novo 569 kb interstitial duplication of 22q13.2 and short stature, speech …
The majority of reported patients have terminal duplications, with only three previous reports of interstitial duplication of …
Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
Riley KN, Catalano LM, Bernat JA, Adams SD, Martin DM, Lalani SR, Patel A, Burnside RD, Innis JW, Rudd MK. Riley KN, et al. Am J Med Genet A. 2015 Nov;167A(11):2664-73. doi: 10.1002/ajmg.a.37269. Epub 2015 Jul 31. Am J Med Genet A. 2015. PMID: 26227573
In the 2q13 duplication cohort, we report dysmorphic features, DD, and abnormal head size. Two individuals with large duplications spanning 2q11.2-2q13 have dysmorphic features, hypotonia, and DD. ...
In the 2q13 duplication cohort, we report dysmorphic features, DD, and abnormal head size. Two individuals with large duplications
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, McKee S, Rosenfeld JA, Suri M, Lewis AM, Nugent KM, Roeder E, Littlejohn RO, Holder S, Zhu W, Alaimo JT, Graham B, Harris JM, Gibson JB, Pastore M, McBride KL, Komara M, Al-Gazali L, Al Shamsi A, Fanning EA, Wierenga KJ, Scott DA, Ben-Neriah Z, Meiner V, Cassuto H, Elpeleg O, Holder JL Jr, Burrage LC, Seaver LH, Van Maldergem L, Mahida S, Soul JS, Marlatt M, Matyakhina L, Vogt J, Gold JA, Park SM, Varghese V, Lampe AK, Kumar A, Lees M, Holder-Espinasse M, McConnell V, Bernhard B, Blair E, Harrison V; DDD study; Muzny DM, Gibbs RA, Elsea SH, Posey JE, Bi W, Lalani S, Xia F, Yang Y, Eng CM, Lupski JR, Liu P. Vetrini F, et al. Genome Med. 2019 Feb 28;11(1):12. doi: 10.1186/s13073-019-0623-0. Genome Med. 2019. PMID: 30819258 Free PMC article.
TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome (deletion/haploinsufficiency) and Potocki-Lupski syndrome (duplication/triplosensitivity). METHODS: Genome-wide analyses by exome seq …
TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome …
113 results