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Clinical genetics, v.60 no.1, 2001년, pp.73 - 76
Gray, BA , Bent‐Williams, A , Wolff, DJ , Zori, RT
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The absence of a sex chromosome in conjunction with the presence of a marker chromosome generally implicates a sex chromosome origin for such marker chromosomes. These types of findings are frequently associated with Ullrich-Turner syndrome. We report a patient that presented with an atypical Ullric...
Grompe, M., Rao, N., Elder, F. F. B., Caskey, C. T., Greenberg, F.. 45,X/46,X, + r(X) can have a distinct phenotype different from Ullrich‐Turner syndrome. American journal of medical genetics, vol.42, no.1, 39-43.
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Krasna, I.H., Lee, M.-I., Smilow, P., Sciorra, L., Eierman, L.. Risk of malignancy in bilateral streak gonads: The role of the Y chromosome. Journal of pediatric surgery, vol.27, no.11, 1376-1380.
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Am J Hum Genet Wolff DJ 87 55 1994 Small marker X chromosomes lack the X inactivation center: implications for karyotype/phenotype correlations
Patsalis, Philippos C., Hadjimarcou, Michael I., Velissariou, Voula, Kitsiou‐Tzeli, Sophia, Zera, Christina, Syrrou, Maria, Lyberatou, Evangelia, Tsezou, Aspasia, Galla, Angeliki, Skordis, Nicos. Supernumerary marker chromosomes (SMCs) in Turner syndrome are mostly derived from the Y chromosome. Clinical genetics, vol.51, no.3, 184-190.
Van Dyke, Daniel L., Wiktor, Anne, Paliner, Catherine G., Miller, Dorothy A., Witt, Michal, Babu, V. Ramesh, Worsham, Maria J., Roberson, Jacquelyn R., Weiss, Lester. Ullrich‐Turner syndrome with a small ring X chromosome and presence of mental retardation. American journal of medical genetics, vol.43, no.6, 996-1005.
Cole, Heath, Huang, Bing, Salbert, Bonnie Anne, Brown, Judith, Howard‐Peebles, Patricia N., Black, Susan H., Dorfmann, Andrew, Febles, Oscar R., Stevens, Cathy A., Jackson‐Cook, Colleen. Mental retardation and Ullrich‐Turner syndrome in cases with 45,X/46,X,+ mar: Additional support for the loss of the X‐inactivation center hypothesis. American journal of medical genetics, vol.52, no.2, 136-145.
Zenger‐Hain, Julie L., Wiktor, Anne, Goldman, Jose, Van Dyke, Daniel L., Weiss, Lester. X‐inactivation pattern in an Ullrich-Turner syndrome patient with a small ring X and normal intelligence. American journal of medical genetics, vol.47, no.4, 490-493.
Am J Hum Genet Migeon BR 161 58 1996 Lack of X inactivation associated with maternal X isodisomy: evidence for a counting mechanism prior to X inactivation during human embryogenesis
Genet Couns Kleczkowska A 227 1 1990 Cytogenetic findings in a consecutive series of 478 patients with Turner syndrome. The Leuven experience 1965-1989 [published erratum appears in Genet Couns 1991: 2: 130]
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10.1002/(SICI)1096-8628(19980203)75:4<355::AID-AJMG4>3.0.CO;2-P
10.1002/(SICI)1096-8628(19980203)75:4<367::AID-AJMG5>3.0.CO;2-N
Chudoba, I, Franke, Y, Senger, G, Sauerbrei, G, Demuth, S, Beensen, V, Neumann, A, Hansmann, I, Claussen, U. Maternal UPD 20 in a hyperactive child with severe growth retardation. European journal of human genetics : EJHG, vol.7, no.5, 533-540.
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