Klinefelter syndrome in a patient with double Y-autosomal translocation ; Синдром Клайнфельтера у пациента с двойной Y-аутосомной транслокацией

Συγγραφείς: V. B. Chernykh, F. M. Bostanova, T. M. Sorokina, M. I. Shtaut, L. P. Melikyan, O. A. Schagina, N. V. Shilova, В. Б. Черных, Ф. М. Бостанова, Т. М. Сорокина, М. И. Штаут, Л. П. Меликян, О. А. Щагина, Н. В. Шилова

Συνεισφορές: The work was carried out within the framework of the state assignment of the Ministry of Education and Science of Russia for the Federal State Budgetary Institution «MGSC». The authors of this article confirmed the lack of conflict of interest and financial support, which should be reported, Работа выполнена в рамках государственного задания Минобрнауки России для ФГБНУ «МГНЦ». Авторы данной статьи подтвердили отсутствие конфликта интересов и финансовой поддержки, о которых необходимо сообщить

Πηγή: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 69, № 4 (2024); 97-101 ; Российский вестник перинатологии и педиатрии; Том 69, № 4 (2024); 97-101 ; 2500-2228 ; 1027-4065

Θεματικοί όροι: Y-аутосомные транслокации, sex chromosomes, Klinefelter syndrome, robertsonian translocations, Y-autosomal translocations, половые хромосомы, синдром Клайнфельтера, робертсоновские транслокации

Περιγραφή αρχείου: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/2035/1521; Баранов В.С., Кузнецова Т.В. Цитогенетика эмбрионального развития человека: Научно-практические аспекты. СПб.: Издательство Н-Л, 2006; 640.; Ворсанова С.Г., Юров Ю.Б., Чернышов В.Н. Медицинская цитогенетика. М.: Медпрактика-М, 2006; 300.; Gardner R.J.M., Amor D.J. Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling. 5 th Edition, Oxford University Press, Oxford, 2018; 1268.; Медицинская генетика : национальное руководство. Под ред. Е.К. Гинтера, В.П. Пузырева, С.И. Куцева. М.: ГЭОТАР-Медиа, 2022; 896.; Berglund A., Stochholm K., Gravholt C.H. The epidemiology of sex chromosome abnormalities. Am J Med Genet C Semin Med Genet 2020; 184(2): 202–215. DOI:10.1002/ajmg.c.31805; Черных В.Б. Гоносомные аномалии и CNV, и их диагностика. Медицинская генетика 2018; 17(10): 8–14. URL: https://www.medgen-journal.ru/jour/article/view/586?locale=ru_RU; Штаут М.И., Сорокина Т.М., Курило Л.Ф., Черных В.Б. Сперматологическая характеристика мозаичной и немозаичной формы синдрома Клайнфельтера. Андрология и генитальная хирургия 2019; 20(4): 12–16. URL: https://www.researchgate.net/publication/338067880_Shtaut_M_I_Sorokina_T_M_Kurilo_L_F_Chernykh_V_B_Spermatological_characteristics_of_mosaic_and_non-mosaic_forms_of_Klinefelter_syndrome_Andrologiya_i_genital'naya_khirurgiya_Andrology_and_Genital_Surge; Vorsanova S.G., Demidova I.A., Kolotii A.D., Kurinnaia O.S., Kravets V.S., Soloviev I.V. et al. Klinefelter syndrome mosaicism in boys with neurodevelopmental disorders: a cohort study and an extension of the hypothesis. Mol Cytogenet 2022; 15(1): 8. DOI:10.1186/s13039–022–00588-z; Frühmesser A., Kotzot D. Chromosomal variants in Klinefelter syndrome. Sex Dev 2011; 5(3): 109–123. DOI:10.1159/000327324; Lamy M., de Grouchy, Frezal J., Josso N., Feintuch G. Klinefelter’s syndrome and hypospadias. Presence of 2 X chromosomes. Rupture of Y chromosome and translocation of its fragments. C R Hebd Seances Acad Sci 1962; 255: 581–583.; Roberti M.C., La Starza R., Surace C., Sirleto P., Pinto R.M., Pierini V. et al. RABGAP1L gene rearrangement resulting from a der(Y)t(Y;1)(q12;q25) in acute myeloid leukemia arising in a child with Klinefelter syndrome. Virchows Arch 2009; 454(3): 311–316. DOI:10.1007/s00428–009–0732-z; Onrat S.T., Söylemez Z., Elmas M. 46,XX,der(15),t(Y;15) (q12;p11) karyotype in an azoospermic male. Indian J Hum Genet 2012; 18(2): 241–245. DOI:10.4103/0971–6866.100785; ISCN 2020: An International System for Human Cytogenomic Nomenclature (2020). Editors J. McGowan-Jordan, R.J. Hastings, S Moore. Karger, 2020; 170. DOI:10.1159/isbn.978–3–318–06867–2; Hsu L.Y. Phenotype/karyotype correlations of Y chromosome aneuploidy with emphasis on structural aberrations in postnatally diagnosed cases. Am J Med Genet 1994; 53: 108–140. DOI:10.1002/ajmg.1320530204; Alitalo T., Tiihonen J., Hakola P., la Chapelle A. A Molecular characterization of a Y;15 translocation segregating in a family. Hum Genet 1988; 79: 29–35. DOI:10.1007/BF00291705; Powell C. Sex chromosomes and sex abnormalities. The principles of clinical cytogenetics. Editors G.L. Gersen, M.B. Keagle. Totowa NJ: Humana Press; 1999; 229–258.; Manvelyan M., Riegel M., Santos M., Fuster C., Pellestor F., Mazaurik M.L. et al. Thirty-two new cases with small supernumerary marker chromosomes detected in connection with fertility problems: detailed molecular cytogenetic characterization and review of the literature. Int J Mol Med 2008; 21(6): 705–714.

Διαθεσιμότητα: https://www.ped-perinatology.ru/jour/article/view/2035
https://doi.org/10.21508/1027-4065-2024-69-4-97-101

Partial spermatogenic arrest in two Robertsonian (14;15) translocations carriers ; Частичный блок сперматогенеза у двух носителей робертсоновских транслокаций (14;15)

Συγγραφείς: M. V. Andreeva, L. F. Kurilo, M. I. Shtaut, V. B. Chernykh, М. В. Андреева, Л. Ф. Курило, М. И. Штаут, В. Б. Черных

Συνεισφορές: The work was carried out under the project “Multicenter Research Bioresource Collection “Human Reproductive Health”” No. 15.БРK.21.0008 of the Ministry of Science and Higher Education of the Russian Federation., Работа выполнена в рамках проекта «Многоцентровая исследовательская биоресурсная коллекция “Репродуктивное здоровье человека”» №15.БРК.21.0008 Министерства науки и высшего образования РФ.

Πηγή: Medical Genetics; Том 22, № 4 (2023); 44-48 ; Медицинская генетика; Том 22, № 4 (2023); 44-48 ; 2073-7998

Θεματικοί όροι: сперматогенез, meiotic arrest, male infertility, oligozoospermia, Robertsonian translocations, spermatogenesis, мейотический блок, мужское бесплодие, олигозооспермия, робертсоновские транслокации

Περιγραφή αρχείου: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2285/1710; Krausz C., Riera-Escamilla A. Genetics of male infertility. Nat Rev Urol. 2018;15(6):369-384. doi:10.1038/s41585-018-0003-3.; Nielsen J., Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991;87(1):81-3. doi:10.1007/BF01213097.; McKinlay Gardner R. J. and others (eds), Robertsonian Translocations, Gardner and Sutherland’s Chromosome Abnormalities and Genetic Counseling, 5 edn, Oxford Monographs on Medical Genetics (New York, 2018; online edn, Oxford Academic, 1 Feb. 2018), https://doi.org/10.1093/med/9780199329007.003.0007; Vincent M.C., Daudin M., De M.P. et al. Cytogenetic investigations of infertile men with low sperm counts: a 25-year experience. J Androl. 2002;23(1):18-22; discussion 4 4-5. doi:10.1002/j.1939-4640.2002.tb02597.x.; Ferfouri F., Selva J., Boitrelle F. et al. The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type. Fertil Steril. 2011;96(6):1337-43. doi:10.1016/j.fertnstert.2011.09.008.; Wiland E., Olszewska M., Woźniak T. et al. How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers? Cell Mol Life Sci. 2020;77(23):4765-4785. doi:10.1007/s00018-020-03560-5.; Ковалева Н.В. Частота и спектр робертсоновских транслокаций в общей популяции и у пациентов с нарушениями репродукции. Генетика 2018; 54(4):487–492. https://doi.org/10.7868/S0016675818040112; Курило Л.Ф., Дубинская В.П., Остроумова Т.В. и др. Оценка сперматогенеза по незрелым половым клеткам эякулята. Проблемы репродукции 1995;3:33–8.; WHO laboratory manual for the examination and processing of human semen. 5th ed. WHO, 2010. 271 p.; Курило Л.Ф. Способ цитологической диагностики нарушения сперматогенеза. Патент на изобретение № 2328736 от 01.02.2007.; Pastuszek E., Kiewisz J., Kulwikowska P.M. et al. Sperm parameters and DNA fragmentation of balanced chromosomal rearrangements carriers. Folia Histochem Cytobiol. 2015;53(4):314-21. doi:10.5603/fhc.a2015.0032.; Eaker S., Pyle A., Cobb J., Handel M.A. Evidence for meiotic spindle checkpoint from analysis of spermatocytes from Robertsonian-chromosome heterozygous mice. J Cell Sci. 2001;114(Pt 16):2953-65. doi:10.1242/jcs.114.16.2953.; Luciani J.M., Guichaoua M.R., Mattei A., Morazzani M.R. Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle. Cytogenet Cell Genet. 1984;38(1):14-22. doi:10.1159/000132023.; Rosenmann A., Wahrman J., Richler C. et al. Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet Cell Genet. 1985;39(1):19-29. doi:10.1159/000132098.; Navarro J., Vidal F., Benet J. et al. XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation. Hum Reprod. 1991;6(3):376-81. doi:10.1093/oxfordjournals.humrep.a137343.; Johannisson R., Schwinger E., Wolff H.H. et al. The effect of 13;14 Robertsonian translocations on germ-cell differentiation in infertile males. Cytogenet Cell Genet. 1993;63(3):151-5. doi:10.1159/000133524.; Johannisson R., Löhrs U., Wolff H.H., Schwinger E. Two different XY-quadrivalent associations and impairment of fertility in men. Cytogenet Cell Genet. 1987;45(3-4):222-30. doi:10.1159/000132458.; Oliver-Bonet M., Benet J., Sun F. et al. Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure. Hum Reprod. 2005 Mar;20(3):683-8. doi:10.1093/humrep/deh654.; Templado C., Vidal F., Navarro J. et al. Meiotic studies and synaptonemal complex analysis in two infertile males with a 13/14 balanced translocation. Hum Genet. 1984;67(2):162-5. doi:10.1007/BF00272992.; Wiland E., Olszewska M., Huleyuk N. et al. The effect of Robertsonian translocations on the intranuclear positioning of NORs (nucleolar organizing regions) in human sperm cells. Sci Rep. 2019;9(1):2213. doi:10.1038/s41598-019-38478-x.

Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/2285
https://doi.org/10.25557/2073-7998.2023.04.44-48

Spermatological defects in male with robertsonian translocations ; Сперматологические нарушения у мужчин-носителей робертсоновских транслокаций

Συγγραφείς: M. V. Andreeva, L. F. Kurilo, T. M. Sorokina, O. A. Solovova, V. B. Chernykh, М. В. Андреева, Л. Ф. Курило, Т. М. Сорокина, О. А. Соловова, В. Б. Черных

Πηγή: Medical Genetics; Том 20, № 12 (2021); 53-57 ; Медицинская генетика; Том 20, № 12 (2021); 53-57 ; 2073-7998

Θεματικοί όροι: сперматогенез, oligozoospermia, meiosis, male infertility, Robertsonian translocations, spermatogenesis, олигозооспермия, мейоз, мужское бесплодие, робертсоновские транслокации

Περιγραφή αρχείου: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2004/1539; Agarwal A., Mulgund A., Hamada A., Chyatte M.R. A unique view on male infertility around the globe. Reprod Biol Endocrinol. 2015 Apr 26;13:37. doi:10.1186/s12958-015-0032-1.; Therman E., Susman B., Denniston C. The nonrandom participation of human acrocentric chromosomes in Robertsonian translocations. Ann Hum Genet. 1989 Jan;53(1):49-65. doi:10.1111/j.1469-1809.1989.tb01121.x.; Nielsen J., Wohlert M. Chromosome abnormalities found among 34,910 newborn children: results from a 13-year incidence study in Arhus, Denmark. Hum Genet. 1991 May;87(1):81-3. doi:10.1007/BF01213097.; De Braekeleer M., Dao T.N. Cytogenetic studies in male infertility: a review. Hum Reprod. 1991 Feb;6(2):245-50.; Van Assche E., Bonduelle M., Tournaye H., Joris H. et al. Cytogenetics of infertile men. Hum Reprod. 1996 Dec;11 Suppl 4:1-24; discussion 25-6. doi:10.1093/humrep/11.suppl_4.1.; Mau-Holzmann UA. Somatic chromosomal abnormalities in infertile men and women. Cytogenet Genome Res. 2005;111(3-4):317-36. doi:10.1159/000086906; Ogur G., Van Assche E., Vegetti W. et al. Chromosomal segregation in spermatozoa of 14 Robertsonian translocation carriers. Mol Hum Reprod. 2006 Mar;12(3):209-15. doi:10.1093/molehr/gah253.; Ferfouri F., Selva J., Boitrelle F. et al. The chromosomal risk in sperm from heterozygous Robertsonian translocation carriers is related to the sperm count and the translocation type. Fertil Steril. 2011 Dec;96(6):1337-43. doi:10.1016/j.fertnstert.2011.09.008.; Lamotte A., Martinez G., Devillard F. et al. Is sperm FISH analysis still useful for Robertsonian translocations? Meiotic analysis for 23 patients and review of the literature. Basic Clin Androl. 2018 May 7;28:5. doi:10.1186/s12610-018-0069-z.; Kovaleva N.V. Examination of Rates and Spectrums of Robertsonian Translocations in the General Population and in Patients with Reproductive Disorders.Russ J Genet. 2018; 54: 489-493. https://doi.org/10.1134/S1022795418040099.; WHO laboratory manual for the examination and processing of human semen. 5th ed. WHO, 2010. 271 p.; Zhang L., Jiang W., Zhu Y. et al. Effects of a carrier’s sex and age on the segregation patterns of the trivalent of Robertsonian translocations. J Assist Reprod Genet. 2019 Sep;36(9):1963-1969. doi:10.1007/s10815-019-01534-6.; Luciani J.M., Guichaoua M.R., Mattei A., Morazzani M.R. Pachytene analysis of a man with a 13q;14q translocation and infertility. Behavior of the trivalent and nonrandom association with the sex vesicle. Cytogenet Cell Genet. 1984;38(1):14-22. doi:10.1159/000132023.; Rosenmann A., Wahrman J., Richler C., Voss R. et al. Meiotic association between the XY chromosomes and unpaired autosomal elements as a cause of human male sterility. Cytogenet Cell Genet. 1985;39(1):19-29. doi:10.1159/000132098.; Johannisson R., Schwinger E., Wolff H.H. et al. The effect of 13;14 Robertsonian translocations on germ-cell differentiation in infertile males. Cytogenet Cell Genet. 1993;63(3):151-5. doi:10.1159/000133524.; Guichaoua M.R., Quack B., Speed R.M. et al. Infertility in human males with autosomal translocations: meiotic study of a 14;22 Robertsonian translocation. Hum Genet. 1990 Dec;86(2):162-6. doi:10.1007/BF00197698.; Navarro J., Vidal F., Benet J. et al. XY-trivalent association and synaptic anomalies in a male carrier of a Robertsonian t(13;14) translocation. Hum Reprod. 1991 Mar;6(3):376-81. doi:10.1093/oxfordjournals.humrep.a137343.; Templado C., Vidal F., Navarro J. et al.Meiotic studies and synaptonemal complex analysis in two infertile males with a 13/14 balanced translocation. Hum Genet. 1984;67(2):162-5. doi:10.1007/BF00272992.; Oliver-Bonet M., Benet J., Sun F. et al. Meiotic studies in two human reciprocal translocations and their association with spermatogenic failure. Hum Reprod. 2005 Mar;20(3):683-8. doi:10.1093/humrep/deh654.; Mudrak O.S., Nazarov I.B., Jones E.L., Zalensky A.O. Positioning of chromosomes in human spermatozoa is determined by ordered centromere arrangement. PLoS One. 2012;7(12):e52944. doi:10.1371/journal.pone.0052944.; Wiland E., Zegało M., Kurpisz M.Interindividual differences and alterations in the topology of chromosomes in human sperm nuclei of fertile donors and carriers of reciprocal translocations. Chromosome Res. 2008;16(2):291-305. doi:10.1007/s10577-007-1194-2.; Wiland E., Olszewska M., Woźniak T., Kurpisz M. How much, if anything, do we know about sperm chromosomes of Robertsonian translocation carriers? Cell Mol Life Sci. 2020 Dec;77(23):4765-4785. doi:10.1007/s00018-020-03560-5.

Διαθεσιμότητα: https://www.medgen-journal.ru/jour/article/view/2004
https://doi.org/10.25557/2073-7998.2021.12.53-57

Chromosome synapsis, recombination and epigenetic modification in rams heterozygous for metacentric chromosome 3 of the domestic sheep Ovis aries and acrocentric homologs of the argali Ovis ammon ; Синапсис, рекомбинация и эпигенетическая модификация хромосом у баранов, гетерозиготных по метацентрической хромосоме 3 домашней овцы Ovis aries и акроцентрическим гомологам архара Ovis ammon

Συγγραφείς: T. I. Bikchurina, E. K. Tomgorova, A. A. Torgasheva, V. A. Bagirov, N. A. Volkova, P. M. Borodin, Т. И. Бикчурина, Е. К. Томгорова, А. А. Торгашева, В. А. Багиров, Н. А. Волкова, П. М. Бородин

Συνεισφορές: This work was supported by Russian Science Foundation grant No. 18-16-00079. We thank the Microscopy Center of the Siberian Branch of the Russian Academy of Sciences (http://www.bionet.nsc.ru/microscopy/) for providing access to the microscopic facilities.

Πηγή: Vavilov Journal of Genetics and Breeding; Том 23, № 3 (2019); 355-361 ; Вавиловский журнал генетики и селекции; Том 23, № 3 (2019); 355-361 ; 2500-3259

Θεματικοί όροι: робертсоновские транслокации, immunostaining, meiosis, synaptonemal complex, recombination, Robertsonian translocation, иммуноокрашивание, мейоз, синаптонемные комплексы, рекомбинация

Περιγραφή αρχείου: application/pdf

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Διαθεσιμότητα: https://vavilov.elpub.ru/jour/article/view/2028
https://doi.org/10.18699/VJ19.502