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Autor:
J. L. K. Van Hove, Allyn McConkie-Rosell, J. T. Lanman, Yuang-Tsong Chen, Stephen G. Kahler, A. K. Iafolla, M. D. Hennessy
Publikováno v:
American journal of medical genetics. 44(1)
We present a boy with a rare unbalanced translocation 46,XY,-15,+der(22),t(15;22)(q13;q11) pat. Previous reports of similar chromosome findings mention only the Prader-Willi phenotype. At birth, his manifestations included severe hypotonia and lethar