المؤلفون: M. Minzhenkova E., Z. Markova G., I. Anisimova V., I. Kanivetc V., N. Shilova V., М. Миньженкова Е., Ж. Маркова Г., И. Анисимова В., И. Канивец В., Н. Шилова В.

المصدر: Medical Genetics; Том 20, № 4 (2021); 49-56 ; Медицинская генетика; Том 20, № 4 (2021); 49-56 ; 2073-7998

مصطلحات موضوعية: cryptic genomic imbalance, abnormal phenotype, deletion 8q22 2q22 3, chromosomal microarray, CNV, скрытый геномный дисбаланс, аномальный фенотип, делеция 8q22 2q22 3, хромосомный микроматричный анализ

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1906/1486; De Gregori M, Ciccone R, Magini P, et al. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients. J Med Genet. 2007;44:750-762.; Higgins A.W. et al. Characterization of apparently balanced chromosomal rearrangements from the Developmental Genome Anatomy Project. Am J Hum Genet. 2008;82:712-722.; Schluth-Bolard С, Delobel B, Damien S et al. Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: Array CGH study of 47 unrelated. Eur J Med Genet. 2009;52:291-296.; Миньженкова М.Е., Маркова Ж.Г., Гусева Д.М. и др. Характеристика геномного дисбаланса у пациентов со сбалансированными хромосомными перестройками и аномалиями развития. Медицинская генетика. 2020; 19(9):18-24.; Kuechler A., et al. Five patients with novel overlapping interstitial deletion in 8q22.2-q22.3. Am. J. Med. Genet. 2011; Part A 155:1857-1864.; Kuroda Y., et al. Refinement of the deletion in 8q22.2-q22.3: the minimum deletion size at 8q22.3 related to intellectual disability and epilepsy. Am. J. Med. Genet. 2014;Part A: 9999, 1-5.; Sinajon P., Gofine T., Ingram J., So J. Microdeletion 8q22.2-q22.3 in a 40-year-old male. Eu J Med Genet. 2015;58(11):569-572.; Rincon A., Paez-Rojas P. and Suárez-Obando F. 8q22.2q22.3 Microdeletion Syndrome Associated with Hearing Loss and Intractable Epilepsy. Case Reports in Genetics. 2019;1-6.; Marcinkute R., Brazdziunaite D.,Burokiene N. et al. A de novo 8q22.2q22.3 interstitial microdeletion in a girl with developmental delay and congenital defects. Eu J Med Genet. 2015;58(11): E-P11.08:977.; Busche A., Tuttelmann F., et al. Clinical and molecular characterization of a novel patient with a 8q22.2q22.3 microdeletion. German society of human genetics 2017 meeting.2017; P-CytoG-127:125.; Venegas-Vega C., Guardado M., Juarez E. et al. Clinical and molecular delineation of the emerging 8q22.3 microdeletion syndrome. Eu J Med Genet. 2014;22(1): P08.07-S:149.; Paez P., Perdomo S., Rojas X. A first reported case of a microdeletion in 8q22.22q23 in Colombia. Phenotypic and genotyping correlation. Clinical genetics and dysmorphology. 2012;3115W.; Swisshelm K., Toomey S., LeRoux J. et al. Co-existence of a complex, three-way translocation with a 4.6 Mb deletion in 8q22.3-8q23.1. American Society of Human Genetics 2016 Annual Meeting. 2016;867F:338.; Vlaskamp D.R.M., Callenbach P.M.C., Rump P. et al. Copy number variation in a hospital-based cohort of children with epilepsy. Epilepsia Open. 2017;2(2):244-254.; Chen C.-P., Chang T.-Y., Hung F.-Y. et al. Prenatal diagnosis of an 8q22.2-q23.3 deletion associated with bilateral cleft lip and palate and intrauterine growth restriction on fetal ultrasound. Taiwanese Journal of Obstetrics & Gynecology. 2017;56:843-846.; Douzgou S., Petersen M. B. Clinical variability of genetic isolates of Cohen syndrome. Clinical Genetics. 2011;79(6):501-506.; Wang W,Zhou Z, Zhao W, Huang Y,TangR, YingK,XieY,MaoY. Molecular cloning, mapping and characterization of the human neurocalcin delta gene (NCALD). Biochim Biophys Acta. 2001;1518: 162-167.; Tyynismaa H., Ylikallio E., Patel M. et al. A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am. J. Hum. Genet. 2009;85(2):290-295.; Kellis M. et al. Defining functional DNA elements in the human genome. Proceedings of the National Academy of Sciences: journal. 2014;111(17):6131-6138.; https://www.medgen-journal.ru/jour/article/view/1906

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1906
https://doi.org/10.25557/2073-7998.2021.04.49-56

المؤلفون: D. Yurchenko A., M. Minzhenkova E., Zh. Markova G., E. Dadali L., N. Shilova V., Д. Юрченко А., М. Миньженкова Е., Ж. Маркова Г., Е. Дадали Л., Н. Шилова В.

المصدر: Medical Genetics; Том 20, № 6 (2021); 41-50 ; Медицинская генетика; Том 20, № 6 (2021); 41-50 ; 2073-7998

مصطلحات موضوعية: derivative chromosome 8, translocation, inv dup del(8p), FISH, дериватная хромосома 8, транслокация

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1942/1497; ISCN 2016 - An International System for Human Cytogenomic Nomenclature (2016) Ed. McGovan-Jordan J., Simons A, Schmid M. Karger. 2016; Kochhar P. K., Ghosh P. Reproductive outcome of couples with reccurent miscarriage and balanced chromosomal abnormalities. J. Obstet. Gynecol. Res.2013; 39:113-120.DOI:10.1111/j.1447-0756. 2012.01905.x; Gotter A. L., Nimmakayalu M. A., Jalali G. R. et al. A palindrome-driven complex rearrangement of 22q11.2 and 8q24.1 elucidated using novel technologies. GenomeRes.2007;17:470-481.DOI:10.1101/gr.6130907; Giglio S., Calvari V., Gregato G. et al. Heterozygous submicroscopic inversions involving olfactory receptor-gene clusters mediate the recurrent t(4;8)(p16;p23) translocation. Am J Hum Genet 2002; 71: 276-285. DOI:10.1086/341610; Gardner R.J.M., Amor D. Chromosome Abnormalities and Genetic Counselling. Oxford University Press. 2018; 5: 98-99.; Hermetz K.E., Newman S., Conneely K.N., et al. Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism. PLoS Genet. 2014;10(1):e1004139. DOI:10.1371/journal.pgen.1004139.; Santiago F. A., Martínez-Glez V., Santos F. et al. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization. Am J Med Genet Part A. 2014; 167:1018-1025. DOI:10.1002/ajmg.a.36879; Weckselblatt, B., Rudd M. K. Human Structural Variation: Mechanisms of Chromosome Rearrangements. Trends in Genetics. 2015; 31: 587-599. DOI:10.1016/j.tig.2015.05.010; Miller D.T., Adam M.P., Aradhya S., Biesecker L.G., Brothman A.R., Carter N.P. 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; 86:749-64. DOI:10.1016/j.ajhg.2010.04.006.; Zuffardi O., Bonaglia M., Ciccone R., Giorda R. Inverted duplications deletions: underdiagnosed rearrangements? Clin Genet. 2009;75:505-513. DOI:10.1111/j.1399-0004.2009.01187.x; Kato T., Inagaki H., Miyai S., et al. The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications. Human Genetics 2020; 139: 1417-1427. DOI:10.1007/s00439-020-02186-8; Rowe L. R., Lee J.-Y., Rector L. et al. U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. J Med Genet. 2009; 46: 694-702. DOI:10.1136/jmg.2008.065052; Yu S., Graf W.D. Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication. Cytogenet Genome Res. 2010;129:265-274. DOI:10.1159/000315887.; Юрченко Д.А., Миньженкова М.Е., Дадали Е.Л., Шилова Н.В. Клиническая и молекулярно-цитогенетическая характеристика двух случаев инвертированной дупликации со смежной терминальной делецией 8р. Медицинская генетика 2020; 19(3):41-42. DOI:10.25557/2073-7998.2020.03.41-42; https://genome.ucsc.edu/; Introduction to risk calculation in genetic counseling / Edited by Yong I. Int. Oxford university press, 2007. Third edition. 241pp.; Zhang Y., Zhu S., Wu J. et al. Quadrivalent asymmetry in reciprocal translocation carriers predict meiotic segregation patterns in cleavage stage embryos. Reproduct. Biomed. Online 2014; 29(4):490-498. DOI:10.1016/j.rbmo.2014.06.010.; Шилова Н.В., Миньженкова М.Е., Антоненко В.Г. Оценка факторов риска рождения детей с хромосомным дисбалансом у носителей аутосомных реципрокных транслокаций. Генетика. 2019;9(55):1054-1063. DOI:10.1134/S0016675819090169; https://www.medgen-journal.ru/jour/article/view/1942

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1942
https://doi.org/10.25557/2073-7998.2021.06.41-50

المؤلفون: M. Minzhenkova E., Z. Markova G., A. Murtazina F., N. Shilova V., М. Миньженкова Е., Ж. Маркова Г., А. Муртазина Ф., Н. Шилова В.

المصدر: Medical Genetics; Том 20, № 10 (2021); 40-43 ; Медицинская генетика; Том 20, № 10 (2021); 40-43 ; 2073-7998

مصطلحات موضوعية: deletion 6q14 1, CMA, СNV, balanced translocation, PHIP gene, делеция 6q14 1, ХМА, CNV, сбалансированная транслокация, ген PHIP

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1986/1523; ISCN 2020. An International System for Human Cytogenomic Nomenclature (2020) Editor(s): McGowan-Jordan J., Hastings R. J., Moore S., Karger. 2020; 503. Reprint of: Cytogenetic and Genome Research 2020; 160(7-8).; Van Esch H., Rosser E.M. et al. Developmental delay and connective tissue disorder in four patients sharing a common microdeletion at 6q13-14. J Med Genet. 2010; 47: 717-720.; Lespinasse J., Gimelli S. et al. Characterization of an interstitial deletion 6q13- q14.1 in a female with mild mental retardation, language delay and minor dysmorphisms. Eur J Med Genet. 2009; 52: 49-52.; Becker K., Di Donato N., et al. De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability-further delineation of the 6q14 microdeletion syndrome and review of the literature. Eur J Med Genet. 2012; 55: 490-497.; Webster E., Cho M.T., Alexander N., et al. De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features. Cold Spring Harb Mol Case Stud. 2016; 2(6): a001172.; Jansen S., Hoischen A., et al: A genotype-first approach identifies an intellectual disabilityoverweight syndrome caused by PHIP haploinsufficiency. Eur J Hum Genet. 2018; 26: 54-63.; https://www.medgen-journal.ru/jour/article/view/1986

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1986
https://doi.org/10.25557/2073-7998.2021.10.40-43

المؤلفون: Zh. Markova G., M. Minzhenkova E., N. Demina A., N. Shilova V., Ж. Маркова Г., М. Миньженкова Е., Н. Демина А., Н. Шилова В.

المصدر: Medical Genetics; Том 19, № 3 (2020); 30-31 ; Медицинская генетика; Том 19, № 3 (2020); 30-31 ; 2073-7998

مصطلحات موضوعية: интерстициальная микроделеция 9p24 3-p23, ХМА, DMRT1, 9p24 3-p23 deletion, CMA

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/819/491; https://www.medgen-journal.ru/jour/article/view/819

الاتاحة: https://www.medgen-journal.ru/jour/article/view/819
https://doi.org/10.25557/2073-7998.2020.03.30-31

المؤلفون: D. Yurchenko A., M. Minzhenkova E., E. Dadali L., N. Shilova V., Д. Юрченко А., М. Миньженкова Е., Е. Дадали Л., Н. Шилова В.

المصدر: Medical Genetics; Том 19, № 3 (2020); 41-42 ; Медицинская генетика; Том 19, № 3 (2020); 41-42 ; 2073-7998

مصطلحات موضوعية: inv dup del(8p), FISH, хромосомный микроматричный анализ, chromosomal microarray analysis

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/824/496; https://www.medgen-journal.ru/jour/article/view/824

الاتاحة: https://www.medgen-journal.ru/jour/article/view/824
https://doi.org/10.25557/2073-7998.2020.03.41-42

المؤلفون: M. Minzhenkova E., Z. Markova G., D. Guseva M., T. Markova V., N. Demina A., N. Semenova A., L. Bessonova A., T. Vasilyeva A., E. Dadali L., N. Shilova V., М. Миньженкова Е., Ж. Маркова Г., Д. Гусева М., Т. Маркова В., Н. Демина А., Н. Семенова А., Л. Бессонова А., Т. Васильева А., Е. Дадали Л., Н. Шилова В.

المصدر: Medical Genetics; Том 19, № 9 (2020); 18-24 ; Медицинская генетика; Том 19, № 9 (2020); 18-24 ; 2073-7998

مصطلحات موضوعية: balanced chromosomal rearrangements, abnormal phenotype, chromosomal microarray, FISH, CNV, сбалансированные хромосомные перестройки, аномальный фенотип, хромосомный микроматричный анализ

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1704/1340; https://www.medgen-journal.ru/jour/article/view/1704

الاتاحة: https://www.medgen-journal.ru/jour/article/view/1704

المؤلفون: D. Yurchenko A., E. Dadali L., N. Shilova V., Д. Юрченко А., Е. Дадали Л., Н. Шилова В.

المساهمون: The research was carried out within the state assignment of Ministry of Science and Higher Education of the Russian Federation., Работа выполнена в рамках государственного задания Министерства науки и высшего образования России на выполнение НИР.

المصدر: Medical Genetics; Том 19, № 1 (2020); 6-12 ; Медицинская генетика; Том 19, № 1 (2020); 6-12 ; 2073-7998

مصطلحات موضوعية: inv dup del(8p), paracentric inversion, dicentric chromosome, spacer, парацентрическая инверсия, дицентрическая хромосома, спейсер

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/763/469; García-Santiago F. A., Martínez-Glez V., Santos F. et al. Analysis of invdupdel(8p) rearrangement: Clinical, cytogenetic and molecular characterization. Am J Med Genet Part A. 2014; 167:1018–1025. doi:10.1002/ajmg.a.36879; Guo W.J., Callif-Daley F., Zapata M.C., Miller M.E. Clinical and cytogenetic findings in seven cases of inverted duplication of 8p with evidence of a telomeric deletion using fluorescence in situ hybridization. Am J Med Genet 1995; 58:230–236. doi:10.1002/ajmg.1320580307; Weleber R.G., Verma R.S., Kimberling W.J. et al. Duplicationdeficiency of the short arm of chromosome 8 following artificial insemination. Ann Genet. 1976; 19: 241–247.; Henderson K. G., Dill F. J., Wood S. Characterization of an inversion duplication of the short arm of chromosome 8 by fluorescent in situ hybridization. Am J Med Genet 1992; 44: 615–618. doi:10.1002/ajmg.1320440517; Giglio S., Broman K.W., Matsumoto N. et al. Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements. Am J Hum Genet 2001; 68: 874–83. doi:10.1086/319506; Sugawara H., Harada N., Ida T. et al. Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23. Genomics 2003; 82: 238–244. doi:10.1016/s08887543(03)00108-3; Shimokawa O., Kurosawa K., Ida T. et al. Molecular characterization of inv dup del(8p): Analysis of five cases. Am J Med Genet 2004; 128A:133–137. doi:10.1002/ajmg.a.30063.; Hermetz K.E., Newman S., Conneely K.N., et al. Large Inverted Duplications in the Human Genome Form via a Fold-Back Mechanism. PLoS Genet 2014; 10(1):e1004139. doi:10.1371/journal.pgen.1004139.; Rowe L. R., Lee J.-Y., Rector L. et al. U-type exchange is the most frequent mechanism for inverted duplication with terminal deletion rearrangements. Journal of Medical Genetics 2009; 46: 694–702. doi:10.1136/jmg.2008.065052; Zuffardi O., Bonaglia M., Ciccone R., Giorda R. Inverted duplications deletions: underdiagnosed rearrangements?? Clin Genet. 2009; 75: 505–513. doi:10.1111/j.1399-0004.2009.01187.x; Yu S., Graf W.D. Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication. Cytogenet Genome Res. 2010;129:265-274. doi:10.1159/000315887.; Chen C.-P., Ko T.-M., Huang W.-C., et al. Molecular cytogenetic characterization of inv dup del(8p) in a fetus associated with ventriculomegaly, hypoplastic left heart, polyhydramnios and intestinal obstruction. Taiwanese Journal of Obstetrics and Gynecology,2016; 55:415–418. doi:10.1016/j.tjog.2016.05.001; Gardner R.J.M., Sutherland G.R. Chromosome Abnormalities and Genetic Counselling. Oxford University Press. 2011; 4: 164,198.; Feldman G. L., Weiss L., Phelan M. C. et al. Inverted duplication of 8p: Ten new patients and review of the literature. American Journal of Medical Genetics. 1993; 47: 482–486. doi:10.1002/ajmg.1320470410; Bosch N., Morell M., Ponsa I. et al. Nucleotide, Cytogenetic and Expression Impact of the Human Chromosome 8p23.1 Inversion Polymorphism. PLOS ONE. 2009; 4(12): e8269. doi:10.1371/journal.pone.0008269; Anton E., Blanco J., Egozcue J., et al. Sperm studies in heterozygote inversion carriers: a review. Cytogenet Genome Res. 2005; 111: 297–304. doi:10.1159/000086903; Ozgen H., Daalen E., Bolton P. et al. Copy number changes of the microcephalin 1 gene (MCPH1) in patients with autism spectrum disorders. Clin Genet. 2009; 76: 348–356. doi:10.1111/j.13990004.2009.01254.x; Knijnenburg J., Uytdewilligen M.E.W., van Hassel D.A.C.M.,et al., Postzygotic telomere capture causes segmental UPD, duplication and deletion of chromosome 8p in a patient with intellectual disability and obesity. European Journal of Medical Genetics. 2017; 60:445–450. doi:10.1016/j.ejmg.2017.06.003; https://www.medgen-journal.ru/jour/article/view/763

الاتاحة: https://www.medgen-journal.ru/jour/article/view/763
https://doi.org/10.25557/2073-7998.2020.01.6-12

المؤلفون: A. Tveleneva A., N. Shilova V., А. Твеленёва А., Н. Шилова В.

المصدر: Medical Genetics; Том 18, № 3 (2019); 26-38 ; Медицинская генетика; Том 18, № 3 (2019); 26-38 ; 2073-7998

مصطلحات موضوعية: структурная вариабельность, CNV, FISH, PRINS, TSA, structural variability

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/674/409; https://www.medgen-journal.ru/jour/article/view/674

الاتاحة: https://www.medgen-journal.ru/jour/article/view/674

المؤلفون: M. Minzhenkova E., Z. Markova G., N. Demina A., A. Tarlycheva A., I. Kanivets V., N. Shilova V., М. Миньженкова Е., Ж. Маркова Г., Н. Демина А., А. Тарлычева А., И. Канивец В., Н. Шилова В.

المصدر: Medical Genetics; Том 18, № 7 (2019); 40-47 ; Медицинская генетика; Том 18, № 7 (2019); 40-47 ; 2073-7998

مصطلحات موضوعية: малая сверхчисленная маркерная хромосома, тетрасомия 15q, неоцентромера, мозаицизм, FISH, хромосомный микроматричный анализ, Small supernumerary marker chromosome, tetrasomy 15q, neocentromere, mosaicism, array-CGH

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/700/435; https://www.medgen-journal.ru/jour/article/view/700

الاتاحة: https://www.medgen-journal.ru/jour/article/view/700
https://doi.org/10.25557/2073-7998.2019.07.40-47

المؤلفون: Zh. Markova G., M. Minzhenkova V., E. Musatova V., A. Tarlycheva A., N. Shilova V., Ж. Маркова Г., М. Миньженкова В., Е. Мусатова В., А. Тарлычева А., Н. Шилова В.

المصدر: Medical Genetics; Том 17, № 11 (2018); 7-10 ; Медицинская генетика; Том 17, № 11 (2018); 7-10 ; 2073-7998

مصطلحات موضوعية: гетероморфизм хромосом, Y-аутосомные транслокации, флуоресцентная in situ гибридизации (FISH), Chromosomal heteromorphisms, Y-autosome translocations, fluorescence in situ hybridization (FISH)

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/596/377; Liehr T. Benign & Pathological Chromosomal Imbalances. 1. Oxford: Academic; 2014.; Nielsen J, Rasmussen K. Y/autosomal translocations. Clin Genet. 1976; 9:609-17.; Metzler-Guillemain C, Mignon C, Depetris D, et al. Bivalent 15 regularly associates with the sex vesicle in normal male meiosis. Chromosome Res. 1999; 7:369-78.; Chromosome abnormalities and genetic counseling. Oxford monographs of medical genetics n. 6, Gardner RJM, Sutherland GR, Shaffer LG (eds); Int. Oxford press 2012.; Eliez S, Morris MA, Dahoun-Hadorn S, DeLozier-Blanchet CD, et al. Familial translocation t(Y;15)(q12;p11) and de novo deletion of the Prader-Willi syndrome (PWS) critical region on 15q11-q13. Am J Med Genet. 1997;70:222-228.; Rajcan-Separovic E, Robinson WP, Stephenson M. Recurrent trisomy 15 in a female carrier of der(15)t(Y;15)(q12;p13) Am J Med Genet. 2001;99:320-324.; Chen Y, Chen G, Lian Y, et al. A normal birth following preimplantation genetic diagnosis by FISH determination in the carriers of der(15)t(Y;15)(Yq12;15p11) translocations: two case reports. Journal of Assisted Reproduction and Genetics. 2007;24(10):483-488.; ISCN. In: An International System for Human Cytogenetic Nomenclature. 1. Shaffer LG, McGowan-Jordan J, Schmid M, editors. Basel: S. Karger; 2016; Liehr T. Cytogenetically visible copy number variations (CG-CNVs) in banding and molecular cytogenetics of human; about heteromorphisms and euchromatic variants. Molecular Cytogenetics. 2016;9:5.; Alitalo T, Tiihonen J, Hakola P, Chapelle A. Molecular characterization of a Y;15 translocation segregating in a family. Hum Genet. 1988;79:29-35.; Chen-Shtoyerman R, Josefsberg Ben-Yehoshua S, Nissani R, et al. A prevalent Y;15 translocation in the Ethiopian Beta Israel community in Israel. Cytogenet Genome Res. 2012;136:171-4.; Hsu LY. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet. 1994; 53:108-40.; https://www.medgen-journal.ru/jour/article/view/596

الاتاحة: https://www.medgen-journal.ru/jour/article/view/596

المؤلفون: A. Marakhonov V., T. Vasilyeva A., A. Voskresenskaya A., V. Kadyshev V., N. Pozdeyeva A., N. Shilova V., S. Braslavskaya I., O. Khlebnikova V., R. Zinchenko A., S. Kutsev I., А. Марахонов В., Т. Васильева А., А. Воскресенская А., В. Кадышев В., Н. Поздеева А., Н. Шилова В., С. Браславская И., О. Хлебникова В., Р. Зинченко А., С. Куцев И.

المصدر: Medical Genetics; Том 16, № 11 (2017); 23-26 ; Медицинская генетика; Том 16, № 11 (2017); 23-26 ; 2073-7998

مصطلحات موضوعية: врожденная аниридия, синдром WAGR, PAX6, MLPA, 11p13, внутригенные мутации, крупные хромосомные делеции, congenital aniridia, WAGR syndrome, intragenic mutations, large chromosome deletions

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/343/259; Hingorani, M., I. Hanson, and V. van Heyningen, Aniridia. Eur J Hum Genet, 2012. 20(10): p. 1011-7.; Васильева, Т.А., и др., Дифференциальная диагностика наследственных форм врожденной аниридии с позиций современной генетики. Вестник РАМН, 2017. 72. - в печати.; Kаsmann-Kellner, B., B. Seitz, Aniridia syndrome: clinical findings, problematic courses and suggestions for optimization of care («aniridia guide»). Ophthalmologe, 2014. 111(12): p. 1145-56.; Robinson, D.O., et al., Genetic analysis of chromosome 11p13 and the PAX6 gene in a series of 125 cases referred with aniridia. Am J Med Genet A, 2008. 146A(5): p. 558-69.; Crolla, J.A. and V. van Heyningen, Frequent chromosome aberrations revealed by molecular cytogenetic studies in patients with aniridia. Am J Hum Genet, 2002. 71(5): p. 1138-49.; Chen, P., et al., Mutation analysis of paired box 6 gene in inherited aniridia in northern China. Mol Vis, 2013. 19: p. 1169-77.; Grоnskov, K., et al., Population-based risk estimates of Wilms tumor in sporadic aniridia. A comprehensive mutation screening procedure of PAX6 identifies 80% of mutations in aniridia. Hum Genet, 2001. 109(1): p. 11-8.; Kokotas, H. and M.B. Petersen, Clinical and molecular aspects of aniridia. Clin Genet, 2010. 77(5): p. 409-20.; Ito, Y.A., et al., Severe molecular defects of a novel FOXC1 W152G mutation result in aniridia. Invest Ophthalmol Vis Sci, 2009. 50(8): p. 3573-9.; Sadagopan, K.A., et al., Anirdia-like phenotype caused by 6p25 dosage aberrations. Am J Med Genet A, 2015. 167A(3): p. 524-8.; Reis, L.M. and E.V. Semina, Genetics of anterior segment dysgenesis disorders. Curr Opin Ophthalmol, 2011. 22(5): p. 314-24.; Redeker, E.J., et al., Multiplex ligation-dependent probe amplification (MLPA) enhances the molecular diagnosis of aniridia and related disorders. Mol Vis, 2008. 14: p. 836-40.; Wawrocka, A., et al., 11p13 deletions can be more frequent than the PAX6 gene point mutations in Polish patients with aniridia. J Appl Genet, 2013. 54(3): p. 345-51.; Vasilyeva, T.A., et al., Molecular Analysis of Patients with Aniridia in Russian Federation Broadens the Spectrum of PAX6 Mutations. Clin Genet, 2017. 10.1111/cge.13019.; Васильева, Т.А., и др., Изучение генетических основ и разработка протоколов для диагностики наследственных заболеваний органа зрения на примере врожденной аниридии. Медицинская генетика, 2016. 15(6): с. 37-43.; Lek, M., et al., Analysis of protein-coding genetic variation in 60,706 humans. Nature, 2016. 536(7616): p. 285-91.; https://www.medgen-journal.ru/jour/article/view/343

الاتاحة: https://www.medgen-journal.ru/jour/article/view/343

المؤلفون: V. Antonenko G., N. Shilova V., E. Lukash N., E. Babkeeva R., V. Malakhov N., В. Антоненко Г., Н. Шилова В., Е. Лукаш Н., Э. Бабкеева Р., В. Малахов Н.

المصدر: Medical Genetics; Том 17, № 10 (2018); 3-7 ; Медицинская генетика; Том 17, № 10 (2018); 3-7 ; 2073-7998

مصطلحات موضوعية: внешний контроль качества, цитогенетические исследования, external quality assurance, cytogenetic investigations

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/585/366; ISCN 2016 - An International System for Human Cytogenomic Nomenclature (2016) Ed. McGovan-Jordan J., Simons A, Schmid M. Karger. 2016.; Hastings R., Howell R., Bricarelli FD., Kristoffesson U., Cavani S. General Guidelines and Quality Assurance for Cytogenetics. A common European framework for quality assessment for constitutional, acquired and molecular cytogenetic investigations. E. C. A. Newsletter. 2012; 29: 7-25., https://www.e-c-a.eu/en/GUIDELINES.html; Hastings R., Howell R., Bricarelli FD., Kristoffesson U., Cavani S. Specific Constitutional Cytogenetic Guidelines. A common European framework for quality assessment for constitutional, acquired and molecular cytogenetic investigations. E. C. A. Newsletter. 2012; 30: 11-19., https://www.e-c-a.eu/en/GUIDELINES.html; https://www.medgen-journal.ru/jour/article/view/585

الاتاحة: https://www.medgen-journal.ru/jour/article/view/585
https://doi.org/10.25557/2073-7998.2018.10.3-7

المؤلفون: M. Minzhenkova E., Z. Markova G., N. Kuzina Y., M. Petuhova S., G. Matushenko N., N. Shilova V., М. Миньженкова Е., Ж. Маркова Г., Н. Кузина Ю., М. Петухова С., Г. Матющенко Н., Н. Шилова В.

المصدر: Medical Genetics; Том 17, № 10 (2018); 46-50 ; Медицинская генетика; Том 17, № 10 (2018); 46-50 ; 2073-7998

مصطلحات موضوعية: несбалансированная транслокация, мозаицизм, дериватные хромосомы, FISH-анализ, unbalanced translocation, mosaicism, derivative chromosome, FISH-analysis

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/594/375; Ballif B.C., Rorem E.A., Sundin K., et al. Detection of low-level mosaicism by array CGH in routine diagnostic specimen. Am. J.Med. Genet. 2006;140(A):2757-2767.; Gardner R.J., Dockery H.E., Fitzgerald P.H., et al. Mosaicism with a normal cell line and an autosomal structural rearrangement. J. Med. Genet. 1994;31:108-114.; Youssoufian H., Pyeritz R.E. Mechanisms and consequences of somatic mosaicism in humans. Nat. Rev. Genet. 2002;3:748-758.; Baranello G., Cesaretti C., Zambonin F., et al. Partial trisomy 13 and partial monosomy 8 mosaicism secondary to an unbalanced de novo translocation: highlighting an uncommon chromosomal abnormality. Journal of Child Neurology. 2013;28(11):1463-1466.; Zaslav A.L., Fallet S., Blumenthal D., et al. Mosaicism with a normal cell line and an unbalanced structural rearrangement. Am J Med Genet. 1999;82(1):15-19.; Reddy K.S., Sulcova V., Young H., et al. De novo mosaic add(3) characterized to be trisomy 14q31-qter using spectral karyotyping and subtelomeric probes. Am. J. Med. Genet. 1999;82:318-321.; Reddy KS., Mak L. Mosaic unbalanced structural abnormalities confirmed using FISH on buccal mucosal cells. Ann. Gеnеt. 2001;44:37-40.; Kulharya AS, Lovell CM, Flannery DB. Unusual mosaic karyotype resulting from adjacent 1 segregation of t(11;22): importance of performing skin fibroblast karyotype in patients with unexplained multiple congenital anomalies. Am J Med Genet. 2002;113(4):367-370.; Gijsbers A.C., Dauwerse J.G., Bosch C.A., et al. Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation. Eur J Med Genet. 2011;54(4):e409-e412.; Chen C.P, Su Y.N., Chen M., et al. Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation. Taiwanese Journal of Obstetrics & Gynecology. 2011;50:394-398.; Choi J., Lee H., Lee C.G. Partial trisomy of 11q23.3-q25 inherited from a maternal low-level mosaic unbalanced translocation. Am J Med Genet. 2015;Part A(167A):1859-1864.; Choi Y.J., Shin E., Jo T.S., et al. A new mosaic der(18)t(1;18)(q32.1;q21.3) with developmental delay and facial dysmorphism. Korean J Pediatr. 2016;59(2):91-95. http://dx.doi.org/10.3345/kjp.2016.59.2.91; https://www.medgen-journal.ru/jour/article/view/594

الاتاحة: https://www.medgen-journal.ru/jour/article/view/594
https://doi.org/10.25557/2073-7998.2018.10.46-50

المؤلفون: N. Shilova V., Н. Шилова В.

المصدر: Medical Genetics; Том 17, № 1 (2018); 41-49 ; Медицинская генетика; Том 17, № 1 (2018); 41-49 ; 2073-7998

مصطلحات موضوعية: аутосомные реципрокные транслокации, мейотическая сегрегация, хромосомный дисбаланс, жизнеспособность зигот, эмпирический риск, autosomal reciprocal translocation, meiotic segregation, chromosome imbalance, viability of the imbalance, empirical risk

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/382/284; Kochhar P, Ghosh P. Reproductive outcome of couples with recurrent miscarriage and balanced chromosomal abnormalities. J. Obstet. Gynecol. Res. 2013;39: 113-120.; Vozdova M, Kasikova K, Oracova E. et al. The effect of the swim-up and hyaluronan-binding methods on the frequency of abnormal spermatozoa detected by FISH and SCSA in carriers of balanced chromosomal translocations. Hum. Reprod. 2012;27:930-937.; Armstrong S, Goldman A, Speed R. et al. Meiotic studies of a human male carrier of the common translocation, t(11;22), suggest postzygotic selection rather than preferential 3:1 M1 segregation as the cause of the liveborn offsprings with an unbalanced translocation. Am. J. Hum. Genet. 2000;67:601-609.; Midro A, Stengel-Rutkowski S, Stene J. Experiences with risk estimates for carriers of chromosomal reciprocal translocations. Clin. Genet. 1992; V. 41:113-122.; Van Derwerken D. Bayesian assessment of genetic risk in families with a balanced translocations. J. Genet. Counsel. 2015;24:541-547.; Jalbert P, Sele B, Jalbert H. Reciprocal translocations: a way to predict the mode of imbalanced segregation by pachytene-diagram drawing. A study of 151 human translocations. Hum. Genet.1980;55:209-222.; Daniel A. Structural differences in reciprocal translocations. Hum. Genet.1979;51:171-182.; Cohen O, Cans C, Mermet M. et al. Viability threshold for partial trisomies and monosomies. A study of 1,159 viable unbalanced reciprocal translocations. Hum. Genet. 1994; 93:188-194.; Scriven P, Flinter F, Khalaf Y. et al. Benefits and drawbacks of preimplantation genetic diagnosis (PGD) for reciprocal translocations: lessons from a prospective cohort study. Eur. J. Hum. Genet. 2013;21:1035-1041.; Vozdova M,. Oracova E, Kasikova K et al. Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy. J. Assist. Reprod. Genet. 2013;30:391.; Zhang Y, Zhu S, Wu J. et al. Quadrivalent asymmetry in reciprocal translocation carriers predict meiotic segregation patterns in cleavage stage embryos. Reproduct. Biomed. Online. 2014;29(4):490-498.; Cans C, Cohen O, Mermet M.et al. Human reciprocal translocations: is the imbalanced mode at birth predictable? Hum. Genet. 1993;21:228-232.; Anton E, Vidal F, Blanco J. Reciprocal translocations: tracing their meiotic behavior. Genet. Med. 2008;10:730-738.; Faraut T, Mermet M, Demongeot J. et al. Cooperation of selection and meiotic mechanisms in the production of imbalances in reciprocal translocations. Cytogenet. Cell Genet. 2000;88:15-21.; Petronczki M, Siomos M, Nasmyth K. Un menage a quatre: the molecular biology of chromosome segregation in meiosis. Cell. 2003;112:423-440.; Chromosome abnormalities and genetic counseling. Oxford monographs of medical genetics no. 6, Gardner RJ, Sutherland GR, Shaffer LG (eds); Int. Oxford press 2012.; Aguilar J, Bacallao-Guerra J, Bacallao-Gallestey J et. al. Estimating the risk for unbalanced chromosomal aberrations in the offspring from translocation-carrying parents. Biotecnologia Aplicada. 2011;28:156-160.; https://www.medgen-journal.ru/jour/article/view/382

الاتاحة: https://www.medgen-journal.ru/jour/article/view/382
https://doi.org/10.25557/2073-7998.2018.01.41-49

المؤلفون: Y. Kozlova O., I. Kanivets V., E. Musatova V., N. Shilova V., Ю. Козлова О., И. Канивец В., Е. Мусатова В., Н. Шилова В.

المصدر: Medical Genetics; Том 15, № 7 (2016); 33-35 ; Медицинская генетика; Том 15, № 7 (2016); 33-35 ; 2073-7998

مصطلحات موضوعية: реципрокная транслокация, пороки развития плода, хромосомный микроматричный анализ, FISH, chromosomal Translocation, Fetal Growth Retardation, Comparative Genomic Hybridization, FISH Technic

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/150/138; Jacobs PA, Browne C, Gregson N, Joyce C, White H. Estimates of the frequency of chromosome abnormalities detectable in unselected newborns using moderate levels of banding. J Med Genet 29: 103-108, 1992.; Gardner RJ, Sutherland GR, Shaffer LG. Chromosome abnormalities and genetic counseling. Oxford University Press, 2012.; Miller DT, Adam MP, 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 86: 749-764, 2010.; Melotte C, Debrock S, D’Hooghe T, Fryns JP, Vermeesch JR. Preimplantation genetic diagnosis for an insertional translocation carrier. Hum Reprod 19: 2777-2783, 2004.; Золотухина ТВ, Канивец ИВ, Коростелев СА, Шилова НВ и др. Опыт использования комплекса современных методов исследования в конституциональной цитогенетике. Мед Генетика 12(150): 22-28, 2014.; https://www.medgen-journal.ru/jour/article/view/150

الاتاحة: https://www.medgen-journal.ru/jour/article/view/150
https://doi.org/10.1234/XXXX-XXXX-2016-7-33-35

المؤلفون: E. Musatova V., A. Martynov V., Zh. Markova G., I. Vityazeva I., N. Shilova V., Е. Мусатова В., А. Мартынов В., Ж. Маркова Г., И. Витязева И., Н. Шилова В.

المصدر: Medical Genetics; Том 15, № 1 (2016); 38-42 ; Медицинская генетика; Том 15, № 1 (2016); 38-42 ; 2073-7998

مصطلحات موضوعية: неинвазивная пренатальная диагностика, трофобласты, изоляция клеток, основанная на их размере, лазерная микродиссекция, сравнительная геномная гибридизация, non-invasive prenatal diagnosis, trophoblasts, ISET, cytokeratin 7, comparative genomic hybridization

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/90/78; Миньженкова М.Е., Шилова Н.В. , Маркова Ж.Г., Козлова Ю.О., Золотухина Т.В. Эффективность различных методов диагностики хромосомных аномалий при репродуктивных потерях // Медицинская генетика. - 2014. - Т. 13, № 2. - С. 25-30.; Мусатова Е.В., Маркова Ж.Г., Витязева И.И., Шилова Н.В. Оценка возможности выделения клеток трофобласта из периферической крови и их анализа в условиях модельного эксперимента // Современные проблемы науки и образования. - 2015. - № 5; URL: http://www.science-education.ru/ru/article/view?id=21840 (дата обращения: 11.01.2016).; Emad A., Drouin R. Evaluation of the impact of density gradient centrifugation on fetal cell loss during enrichment from maternal peripheral blood // Prenat Diagn. - 2014. - Vol. 34, № 9. - Р. 878-885.; Hatt L., Brinch M., Singh R., Mоller K., Lauridsen R.H., Uldbjerg N., Huppertz B., Christensen B., Kоlvraa S. Characterization of fetal cells from the maternal circulation by microarray gene expression analysis - could the extravillous trophoblasts be a target for future cell-based non-invasive prenatal diagnosis? // Fetal. Diagn. Ther. - 2014. - Vol. 35, № 3. - Р. 218-227.; Kоlvraa S., Christensen B., Lykke-Hansen L., Philip J. The fetal erythroblast is not the optimal target for non-invasive prenatal diagnosis: preliminary results // J. Histochem. Cytochem. - 2005. - Vol. 53(3). - Р. 331-336.; Ma Y.C., Wang L., Yu F.L. Recent advances and prospects in the isolation by size of epithelial tumor cells (ISET) methodology // Technol. Cancer Res. Treat. - 2013. - Vol. 12, № 4. - Р. 295-309.; Mouawia H. Genotyping analysis of circulating fetal cells reveals high frequency of vanishing twin following transfer of multiple embryos // Avicenna J. Med. Biotechnol. - 2013. - Vol. 5, № 2. - Р. 125-132.; Vona G., Sabile A., Louha M., Sitruk V., Romana S., Schutze K., Capron F., Franco D., Pazzagli M., Vekemans M., Lacour B., Brechot C., Paterlini-Brechot P. Isolation by size of epithelial tumor cells: a new method for the immunomorphological and molecular characterization of circulating tumor cells // Am. J. Pathol. - 2000. - Vol. 156, № 1. - Р. 57-63.; Vona G., Beroud C., Benachi A., Quenette A., Bonnefont JP., Romana S., Munnich A., Vekemans M., Dumez Y., Lacour B., Paterlini-Brechot P. Enrichment, immunomorphological, and genetic characterization of fetal cells in maternal blood // Am. J. Pathol. - 2002. - Vol. 160, № 1. - Р. 51-58.; https://www.medgen-journal.ru/jour/article/view/90

الاتاحة: https://www.medgen-journal.ru/jour/article/view/90
https://doi.org/10.1234/XXXX-XXXX-2016-1-38-42

المؤلفون: Y. Kozlova O., V. Zabnenkova V., V. Antonenko G., N. Shilova V., Ю. Козлова О., В. Забненкова В., В. Антоненко Г., Н. Шилова В.

المصدر: Medical Genetics; Том 14, № 11 (2015); 18-22 ; Медицинская генетика; Том 14, № 11 (2015); 18-22 ; 2073-7998

مصطلحات موضوعية: синдром делеции 22q11.2, врожденные пороки сердца, FISH, MLPA, 22q11.2 deletion syndrome, congenital heart disease

وصف الملف: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/66/14; Edelmann L., Pandita R.K., Spiteri E. et al. A common molecular basis for rearrangement disorders on chromosome 22q11 // Hum. Mol. Genet. - 1999. - Vol. 8. - P. 1157-1167.; Fernandez L., Lapunzina P., Arjona D. et al. Comparative study of three diagnostic approaches (FISH, STRs and MLPA) in 30 patients with 22q11.2 deletion syndrome // Clin. Genet. - 2005. - Vol. 68(4). - P. 373-378.; Gong W., Gottlieb S., Collins J. et al. Mutation analysis of TBX1 in non-deleted patients with features of DGS/VCFS or isolated cardiovascular defects // J. Med. Genet. - 2001. - Vol. 38(12). - P. 45-50.; Goodship J., Cross I., Scambler P., Burn J. Monozygotic twins with chromosome 22q11 deletion and discordant phenotype // J. Med. Genet. - 1995. - Vol. 32. - P. 7486-7488.; Kerstjens-Frederikse W., Kurahashi H., Driscoll D. et al. Microdeletion 22q11.2: clinical data and deletion size // J. Med. Genet. - 1999. - Vol. 36. - P. 721-723.; Lindsay E.A., Vitelli F., Pramparo T. et al. Variability and pathogenesis of DiGeorge syndrome in mice // Am. J. Hum. Genet. - 2000. - Vol. 67. - P. 10.; McDonald-McGinn D.M., Zackai E.H. Genetic counseling for the 22q11.2 deletion // Developmental Disabilities Research Reviews. Special Issue: Deletion of 22q11.2. - 2008. - Vol. 14(1). - P. 69-74.; Michaelovsky E., Frisch A., Carmel M. et al. Genotype-phenotype correlation in 22q11.2 deletion syndrome // BMC Med. Genet. - 2012. - Vol. 17, 13.122.; Monteiro F.P., Vieira T.P., Sgardioli I.C. et al. Defining new guidelines for screening the 22q11.2 deletion based on a clinical and dysmorphologic evaluation of 194 individuals and review of the literature // Eur. J. Pediatr. - 2013. - Vol. 172(7). - P. 927-945.; Rauch A., Zink S., Zweier C. et al. Systematic assessment of atypical deletions reveals genotype-phenotype correlation in 22q11.2 // J. Med. Genet. - 2005. - Vol. 42(11). - P. 871-876.; Sandrin-Garcia P., Abramides D., Martelli L. et al. Typical phenotypic spectrum of velocardiofacial syndrome occurs independently of deletion size in chromosome 22q11.2 // Mol. Cell Biochem. - 2007. - Vol. 303(1-2). - P. 9-17.; Shaikh T., Kurahashi H., Saitta S. et al. Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis // Hum. Mol. Genet. - 2000. - Vol. 1, № 9(4). - P. 489-501.; Weksberg R., Stachon A. et al. Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome // Hum. Genet. - 2007. - 120(6). - P. 837-845.; Yagi H., Furutani Y., Hamada H. et al. Role of TBX1 in human del22q11.2 syndrome // Lancet. - 2003. - Vol. 25, 362(9393). - P. 1366-1373.; https://www.medgen-journal.ru/jour/article/view/66

الاتاحة: https://www.medgen-journal.ru/jour/article/view/66
https://doi.org/10.1234/XXXX-XXXX-2015-11-18-22