Делеции атипичного размера у пациентов с СД22q11.2: клинические проявления и диагностика
https://doi.org/10.1234/XXXX-XXXX-2015-11-18-22
Аннотация
Ключевые слова
Об авторах
Ю. О. КозловаРоссия
В. В. Забненкова
Россия
В. Г. Антоненко
Россия
Н. В. Шилова
Россия
Список литературы
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2. 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.
3. 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.
4. 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.
5. 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.
6. 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.
7. 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.
8. Michaelovsky E., Frisch A., Carmel M. et al. Genotype-phenotype correlation in 22q11.2 deletion syndrome // BMC Med. Genet. - 2012. - Vol. 17, 13.122.
9. 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.
10. 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.
11. 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.
12. 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.
13. 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.
14. 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.
Рецензия
Для цитирования:
Козлова Ю.О., Забненкова В.В., Антоненко В.Г., Шилова Н.В. Делеции атипичного размера у пациентов с СД22q11.2: клинические проявления и диагностика. Медицинская генетика. 2015;14(11):18-22. https://doi.org/10.1234/XXXX-XXXX-2015-11-18-22
For citation:
Kozlova Y.O., Zabnenkova V.V., Antonenko V.G., Shilova N.V. Atypical size deletions in patients with 22q.11.2 deletion syndrome: clinics and diagnosis. Medical Genetics. 2015;14(11):18-22. (In Russ.) https://doi.org/10.1234/XXXX-XXXX-2015-11-18-22