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1Academic Journal
Συγγραφείς: N. V. Shilova, M. E. Minzhenkova, Zh. G. Markova, G. N. Matyschenko, Н. В. Шилова, М. Е. Миньженкова, Ж. Г. Маркова, Г. Н. Матющенко
Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 3 (2024); 80-85 ; Российский вестник перинатологии и педиатрии; Том 69, № 3 (2024); 80-85 ; 2500-2228 ; 1027-4065
Θεματικοί όροι: патологическая мейотическая сегрегация, Prader–Willi syndrome, 15q deletion, reciprocal translocation, meiotic malsegregation, синдром Прадера–Вилли, делеция 15q, реципрокная транслокация
Περιγραφή αρχείου: application/pdf
Relation: https://www.ped-perinatology.ru/jour/article/view/2008/1498; Cassidy S.B., Schwartz S., Miller J.L., Driscoll D.J. Prader-Willi syndrome. Genet Med 2012: 14(1): 10-26. DOI:10.1038/gim.0b013e31822bead0; Ho-Ming L. Adult Prader-Willi syndrome: an update on management. Case Rep Genet 2016; 2016: 5251912. DOI:10.1155/2016/5251912; Holm V.A., Cassidy S.B., Butler M.G., Hanchett J.M., Greenswag L.R., Whitman B.Y. et al. Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 1993; 91(2): 398-402.; Angulo M.A., Butler M.G., Cataletto M.E. Prader-Willi syndrome: a review of clinical, genetic, and endocrine findings. J Endocrinol Invest 2015; 38: 1249-1263. DOI:10.1007/ s40618-015-0312-9; Butler M.G., Hartin S.N., Hossain W.A., Manzardo A.M., Kimonis V., Dykens E. et al. Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study. J Med Genet 2019; 56: 149-153. DOI:10.1136/jmedgenet-2018-105301; Cheon C.K. Genetics of Prader-Willi syndrome and Prader- Will-like syndrome. Ann Pediatr Endocrinol Metab 2016; 21: 126-135. DOI:10.6065/apem.2016.21.3.126; Kim S.J., Miller J.L., Kuipers P.J., German J.R., Beaudet A.L., Sahoo T., Driscoll D.J. Unique and atypical deletions in Prader-Willi syndrome reveal distinct phenotypes. Eur J Hum Genet 2012; 20: 283-290. DOI:10.1038/ejhg.2011.187; Xefteris A., Sekerli E., Arampatzi A. Charisiou S., Oikonomidou E., Efstathiou G. et al. Expanded Prader-Willi syndrome due to an unbalanced de novo translocation t(14;15). Report and review of the literature. Cytogenet Genome Res 2019; 159(3): 109-118. DOI:10.1159/000504159; Horsthemke B., Buiting K. Imprinting defects on human chromosome 15. Cytogenet Genome Res 2006; 113: 292-299. DOI:10.1159/000090844; Butler M.G., Duis J. Chromosome 15 Imprinting Disorders: Genetic Laboratory Methodology and Approaches. Front Pediatr 2020; 8: 154. DOI:10.3389/fped.2020.00154; Butler M.G. 15q11.2 BP1-BP2 microdeletion. J Intellect Disabil Res 2017; 61(6): 568-579. DOI:10.1111/jir.12382; Ziats M.N., Goin-Kochel R.P., Berry L.N., Ali M., Ge J., Guffey D. et al. The complex behavioral phenotype of 15q13.3 microdeletion syndrome. Genet Med 2016; 11(18): 1111- 1118. DOI:10.1038/gim.2016.9; Alsagob M., Salih M.A., Hamad M., Al-Yaffe Y., Al-Zahrani J., Al-Bakheet A. et al. First report of two successive deletion on chromosome 15q13 cytogenetic bands in a boy and girl: additional data to 15q13.3 syndrome with a report of high IQ patient. Mol Cytogen 2019; 12: 21. DOI:10.1186/s 13039- 019-0432-6; Lowther C., Costain G., Stavropoulos D.J., Melvin R., Silversides C. K., Andrade D. M. et al. Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature. Genet Med 2015; 17: 149-157. DOI:10.1038/gim.2014.83; Pujana M.A., Nadal M., Guitart M., Armengol L., Gratacos M., Estvill X. Human chromosome 15 q11-q14 regions of rearrangements contain clusters of LCR15 duplicons. Eur J Hum Genet 2002; 10(1): 26-35. DOI:10.1038/sj.ejhg.5200760; Vollger M.R., Guitart X., Dishuck P.C., Mercuri L., Harvey W.T, Gershman A. et al. Segmental duplications and their variation in a complete human genome. Science. 2022; 376(6588): eabj6965. DOI:10.1126/science.abj6965; Gardner R.J., Amor D.J. Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling (5 ed.) Oxford University Press, 2018; 134-212.; Verdoni A., Hu J., Surti U., Babcock M., Sheehan E., Clemens M. et al. Reproductive outcomes in individuals with chromosomal reciprocal translocations. Genet Med 2021; 23: 1753-1760. DOI:10.1038/s41436-021-01195-w
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2Academic Journal
Συγγραφείς: N. V. Shilova, M. E. Minzhenkova, Н. В. Шилова, М. Е. Миньженкова
Πηγή: Medical Genetics; Том 17, № 10 (2018); 15-19 ; Медицинская генетика; Том 17, № 10 (2018); 15-19 ; 2073-7998
Θεματικοί όροι: meiotic malsegregation, хромосомный микроматричный анализ, кариотипирование, FISH, двухсегментный хромосомный дисбаланс, односегментный хромосомный дисбаланс, хромосомные аномалии, патологическая мейотическая сегрегация, pathogenic CNVs, chromosomal microarray, karyotyping, double-segment chromosome imbalance, single-segment chromosome imbalance, chromosome abnormalities
Περιγραφή αρχείου: application/pdf
Relation: https://www.medgen-journal.ru/jour/article/view/587/368; Miller D, Adam M, Aradhya S. et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am. J. Hum. Genet. 2010;86:749-764.; Ahn J, Bint S, Bergbaum A. et al. Array CGH as a first line diagnostic test in place of karyotyping for postnatal referrals results from four years’ clinical application for over 8,700 patients. Molecular Cytogenetics. 2013;6:16.; Lay-Son G, Espinoza K, Vial C. et al. Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies. J. Pediatr (Rio J). 2015;91:189-195.; Ho KS, Wassman ER, Baxter AL. et al. Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders using an ultra-high resolution chromosomal microarray optimized for neurodevelopmental disorders. 2016;17(12): 2070.; Fan Y, Wu Y, Wang L. et al. Chromosomal microarray analysis in developmental delay and intellectual disability with comorbid conditions. BMC Medical Genomics. 2018;11:49.; Kang, S-H, Shaw C, Ou G.et al. Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.Am. J. Med. Genet. 2010;152A:1111 - 1126.; Bui T, Vetro A, Zuffardi O. et al. Current controversies in prenatal diagnosis 3: is conventional chromosomal analysis necessary in the post-array CGH era? Prenat. Diagn. 2011;31:235-243.; Chromosome abnormalities and genetic counseling. Oxford monographs of medical genetics no. 6, Gardner RJ, Sutherland GR, Shaffer LG (eds); Int. Oxford press 2012.; Золотухина ТВ., Канивец ИВ., Коростелев СА. и др. Опыт использования комплекса современных методов исследования в конституциональной цитогенетике. Медицинская генетика. 2014;(12):22-28.; Hermetz KE, Newman S, Connely KN. et al. Large inverted duplications in the human genome form via a fold-back mechanism. PLOS Genetics. 2014;10(1):e1004139.; Weckselblatt B, Rudd MK. Human structural variation: mechanisms of chromosomal rearrangements. Trends in Genetics. 2015;31(10):587-599.; Миньженкова МЕ, Маркова ЖГ, Дадали ЕЛ, Шилова НВ. Интерхромосомная и интрахромосомная инсерции с участием хромосомы 2. Медицинская генетика. 2018;17(2):12-17.; Shaffer LG, Rosenfeld JA. Microarray-based prenatal diagnosis for the identification of fetal chromosome abnormalities. Expert Rev. Mol. Diagn. 2013;13(6):601-611.; Liehr T. «Classical genetics» is not equal to «banding cytogenetics». Molecular Cytogenetics. 2017;10:3.