medgenМедицинская генетикаMedical Genetics2073-7998Publishing House «Genius Media» LLC10.25557/2073-7998.2021.04.49-56medgen-1906Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASEСлучай делеции 8q22.2q22.3 у пациента со сбалансированной de novo транслокацией t(1;6)A case of deletion 8q22.2q22.3 in a child with de novo balanced translocation t(1;6)МиньженковаМ. Е.MinzhenkovaM. E.maramin@mail.ruМарковаЖ. Г.MarkovaZ. G.noemail@neicon.ruАнисимоваИ. В.AnisimovaI. V.noemail@neicon.ruКанивецИ. В.KanivetcI. V.noemail@neicon.ruШиловаН. В.ShilovaN. V.noemail@neicon.ruФГБНУ «Медико-генетический научный центр имени академика Н.П. Бочкова»РоссияResearch Centre for Medical GeneticsRussian Federation2021040820212044956Copyright © Миньженкова М.Е., Маркова Ж.Г., Анисимова И.В., Канивец И.В., Шилова Н.В., 20212021Миньженкова М.Е., Маркова Ж.Г., Анисимова И.В., Канивец И.В., Шилова Н.В.Minzhenkova M.E., Markova Z.G., Anisimova I.V., Kanivetc I.V., Shilova N.V.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://www.medgen-journal.ru/jour/article/view/1906

Выяснение этиопатогенеза аномального фенотипа у пациентов со сбалансированными транслокациями является актуальным аспектом в современной клинической цитогенетике. Формирование аномалий развития может быть ассоциировано с наличием скрытого геномного дисбаланса как в точках разрывов, так и на хромосомах, не задействованных в перестройке. Целью данного исследования явилась этиологическая диагностика геномного дисбаланса у пациента со сбалансированной транслокацией и аномалиями развития. Для детекции геномного дисбаланса у пациента со сбалансированной транслокацией использовали хромосомный микроматричный анализ (ХМА) и FISH-исследование. У пациента со сбалансированной транслокацией при ХМА была выявлена делеция на хромосоме 8, не задействованной в транслокации. Таким образом, в статье представлен новый случай делеции 8q22.2q22.3 у пациента со сбалансированной транслокацией t(1;6) и аномалиями развития вследствие делеции.

Identification of the etiopathogenesis of the abnormal phenotype in patients with balanced translocations is current trend in cytogenetic laboratories. The formation of developmental anomalies can be associated with the presence of a cryptic genomic imbalance both at breakpoints and on chromosomes not involved in rearrangements.The aim of this study is diagnostics of genomic imbalance in a patient with balanced translocation and abnormal phenotype. The case was characterized by GTG-banding, chromosomal microarray analysis and FISH diagnosis. We present a new case of deletion 8q22.2-q22.3 in child with balanced translocation t(1;6) and developmental delay/congenital defects due to deletion.

скрытый геномный дисбалансаномальный фенотипделеция 8q22 2q22 3хромосомный микроматричный анализCNVcryptic genomic imbalanceabnormal phenotypedeletion 8q22 2q22 3chromosomal microarrayCNVReferencesDe 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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.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.

The authors declare that there are no conflicts of interest present.