COMBINATION OF JACOBSEN SYNDROME WITH UNDESCRIBED EARLY ENDOCRINE PATHOLOGY IN 15th YEAR OLD GIRL
https://doi.org/10.18705/2311-4495-2014-0-1-62-66
Abstract
About the Authors
Irina Y. Artem‘EvaRussian Federation
T. M. Pervunina
Russian Federation
I. L. Nikitina
Russian Federation
References
1. Jacobsen P., Hauge M., Henningsen K., Hobolth N., Mikkelsen M., Philip J.: An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study // Hum Hered. - 1973. - Vol. 23. - P. 568-585.
2. Mattina T., Perrotta C.S., Grossfeld P. Jacobsen sybndrome // Orphanet Journal of Rare Diseases. - 2009. - Vol. 4. - P. 9.
3. Schinzel A., Auf de Maur P., Moser H. Partial deletion of long arm of chromosome 11 del 11q23: Jacobsen syndrome // J. Med. Genet. - 1977. - Vol.14. - P. 438-444.
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.
5. Bernaciak J., Szczałuba K., Derwiñska K., Wiśniowiecka-Kowalnik B., Bocian E. et al. Clinical and molecular-cytogenetic evaluation of a family with partial Jacobsen syndrome without thrombocytopenia caused by an approximately 5 Mb deletion del(11)(q24.3) // Am. J. Med. Genet. A. - 2008. - Vol. 146A, № 19. - P. 2449-2454.
6. Wenger S.L., Grossfeld P.D., Siu B.L. et al. 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. - P. 704-708.
7. Tyson C., Qiao Y., Harvard C., Liu X., Bernier F.P. et al. Submicroscopic deletions of 11q24-25 in individuals without Jacobsen syndrome: re-examination of the critical region by high-resolution array-CGH // Mol. Cytogenet. - 2008. - Vol. 1, № 1. - Р. 23.
8. Bohm D., Hoffmann K., Laccone F., Wilken B., Dechent P. et al. Association of Jacobsen sybndrome and bipolar afective disorder in a patient with a de novo 11q terminal deletion // Am. J. Med. Genet. A. - 2006. - Vol.76. - P. 24.
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.
Review
For citations:
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