СОЧЕТАНИЕ СИНДРОМА ЯКОБСЕН С РАНЕЕ НЕОПИСАННЫМИ ЭНДОКРИННЫМИ НАРУШЕНИЯМИ У ДЕВУШКИ 15 ЛЕТ
https://doi.org/10.18705/2311-4495-2014-0-1-62-66
Аннотация
Об авторах
Ирина Юрьевна АртемьеваРоссия
Татьяна Михайловна Первунина
Россия
Ирина Леоровна Никитина
Россия
Список литературы
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4. Helmuth R.A., Weaver D.D., Wills E.R. Holoprosencephaly, ear abnormalities, congenital heart defect and microphallus in a patient with 11q- mosaicism // Am. J. Med. Genetic. - 1989. - Vol. 32. - P. 178-181.
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9. Wenger S.L., Grossfeld P.D., Siu B.L., Coad J.E., Keller F.G., Hummel M. Molecular characterization of an 11q interstitial deletion in a patient with the clinical features of Jacobsen syndrome // Am. J. Med. Genet. - 2006. - Vol. 140, № 7. - Р. 704-708.
10. Penny L.A., Dell’Aquila M., Jones M.C., Bergoffen J., Cunniff C. et al. Clinical and molecular characterization of patients with distal 11q deletions // Am. J. Hum. Genet. - 1995. - Vol.14. - P. 32.
11. Haghi M., Dewan A., Jones K.L., Reitz R., Jones C., Grossfeld P. Endocrine abnormalities in patients with Jacobsen (11q-) syndrome // Am. J. Med. Genet. A. - 2004. - Vol. 129, № 1. - Р. 62-63.
12. Matheisel A., Babinska M., Wierzba J., Wozniak A., Nedoszytko B. et al. A case with 47, XXXY, del(11) (q23) karotype-coexistence of Jacobsen and Klinfelter sybndromes // Genetic counseling. - Vol. 2000. - P. 345.
13. Pivnick E.K.,Velagaleti G.V., Wilroy R.S., Smith M.E., Rose M.E. et al. Jacobsen Syndrome. Report of a patient with severe eye anomalies, growth hormone seficiency, and hypotiroidism associated with deletion 11 (q23q25) and review of 52 cases // J. Med. Genet. - 1996. - Vol. 33. - Р. 772-778.
Рецензия
Для цитирования:
Артемьева И.Ю., Первунина Т.М., Никитина И.Л. СОЧЕТАНИЕ СИНДРОМА ЯКОБСЕН С РАНЕЕ НЕОПИСАННЫМИ ЭНДОКРИННЫМИ НАРУШЕНИЯМИ У ДЕВУШКИ 15 ЛЕТ. Трансляционная медицина. 2014;(1):62-66. https://doi.org/10.18705/2311-4495-2014-0-1-62-66
For citation:
Artem‘Eva I.Y., Pervunina T.M., Nikitina I.L. COMBINATION OF JACOBSEN SYNDROME WITH UNDESCRIBED EARLY ENDOCRINE PATHOLOGY IN 15th YEAR OLD GIRL. Translational Medicine. 2014;(1):62-66. (In Russ.) https://doi.org/10.18705/2311-4495-2014-0-1-62-66