Abstracts of the 35th American Cytogenetics Conference

Autor: S. Sakon, M. Hori, Tom Goldammer, P. Stanier, H. Nishimori, S. Châtelin, L.D. Coogle, J. Kaplan, W.J. Kimberling, H.C. Ardley, A.J. Brookes, H. Hirota, C. Janish, J. Eddleston, R. Matsuoka, Manfred Schwerin, M.Z. Limongi, K. Akagawa, A. Vilain, M. Schmid, M.H. Adams, M. Tamari, T. Kawabe, T. Katagiri, D. Diamond, X. Wang, D. Sundaramurthy, S. Ishikawa, M. Mihara, J. Surrallés, S. Sonta, G. Meroni, P.A. Robinson, G. Del Sal, K.S. Reddy, A. Munnich, F.C. Kischkel, O.T. Tap, G. Della Valle, L.F. Pieri, J. Neesen, Y. Daigo, E. Viegas-Péquignot, F.S. Grass, E. Crawford, K. Weipoltshammer, I. Perrault, R.P. Kimberly, G.R. Rutteman, K.J. McDowell, F. Wachtler, Y. Nakamura, K.S. Theil, T. Ono, K. Gardiner, K.J. Fowler, T. Tetsuka, T. Emahazion, R.G. Brzyski, J. McKeand, B. Malfoy, A.J. Copp, C.M. Moore, D. Molina-Gomez, P. Calvas, R.G. Best, P. Franz, A. Ueno, D.M. Hoover, M. Yokoyama, H. Otsuka, L. Gaddini, T. Nakada, M. Tham, M. Gostissa, O. Maruyama, J. Vanselow, A. Beskow, D.A. Campbell, M.R. Koehler, N. Shimizu, K.H.A. Choo, K. Mikoshiba, J.B. Kenyon, K. Kirschhofer, J.N. Murdoch, A.A. Bosma, H. Satoh, S. Weitz, S. Abu-Hayyeh, J.-M. Rozet, H. Yagita, C. Sreekantaiah, A. Poustka, C. Zijlstra, C.L. Anderson, N.A. de Haan, M.-L. Yaspo, P. Sandy, V. Sulcova, U. Gyllensten, N.D. Sullivan, T. Toki, A.A. Szalay, J. Rogers, Y. Miki, K. Chida, L.L. Culley, D.F. Hudson, T.L. Lear, D. Soenksen, J.-P. Yang, F. Pelliccia, M. Yamamoto, M.M. Bouzyk, X. Li, F. Apiou, K. Kogame, D.V. Irvine, M.M. Leland, T. Kuroki, R. Saffery, A. Rocchi, D.L. Maresco, B. Dutrillaux, H. Nakano, A.T. Natarajan, R. Fürbass, P. Lichter, K. Okumura, E. Souied, E. Ito, J.P. Leek, M. Kimura, A.F. Markham, Ronald M. Brunner, P. Kioschis, P.H. Krammer, S. Saccone, S. Gerber, T. Iwata, B.T. Kile, H.E. Trowell, Y. Shimizu, M. Shindo, T. Nakayama, T. Okamoto, E. Bailey, L.E. Blue, S.M. Witte

Publikováno v: Cytogenetic and Genome Research. 82:131-144

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9067d3b3fbac441f832e1c755fbdd86b
https://doi.org/10.1159/000015087

An infant with a mosaic 45,X/46,X,psu dic(Y) (pter→q11.2:q11.2→pter) karyotype and mixed gonadal dysgenesis studied for extent of mosaicism in the gonads

Autor: V. Sulcova, K.S. Reddy, A. Khurana, C.K. Ho, E.D. Conner

Publikováno v: American Journal of Medical Genetics. 66:441-444

AN infant with mixed gonadal dysgenesis was found to have a 45,X/46,Xpsu dic(Y) karyotype. A low level (8%) of mosaicism for the dic(Y) cell line was observed in peripheral blood lymphocytes and skin fibroblasts. The dicentric nature of the Y chromos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::88ce94434ebbb6cb4e003bcb501c9e32
https://doi.org/10.1002/(sici)1096-8628(19961230)66:4<441::aid-ajmg11>3.0.co

Mosaic tetrasomy 8q: inverted duplication of 8q23.3qter in an analphoid marker

Autor: K S, Reddy, V, Sulcova, S, Schwartz, J E, Noble, J, Phillips, J A, Brasel, K, Huff, H J, Lin

Publikováno v: American journal of medical genetics. 92(1)

We observed an analphoid marker chromosome stable through cell division in a 16-year-old girl with developmental delay, short stature, limb contractures, and ovaries containing multiple cysts. She also developed myasthenia gravis at 15 years. The mar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::f0b4eaa5ce38adb7afd2b2cc3cc17fb1
https://pubmed.ncbi.nlm.nih.gov/10797426

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