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pro vyhledávání: '"Mariasa Bath‐Miriam Katznelson"'
Autor:
Aviva Litwin, Salomon H. Reisner, Gertrude Kohn, James F. Reynolds, John M. Opitz, Paul Merlob, Mariasa Bath‐Miriam Katznelson, Ilana Nissenkorn
Publikováno v:
American Journal of Medical Genetics. 32:22-26
We describe a preterm female infant with multiple anomalies who has a duplication of a large part of 4q and partial deletion of chromosome 1q. Her karyotype was interpreted to be 46,XX,−1, + der(1),t(1;4) (q44;q23 or 24)mat. She is the first patien