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pro vyhledávání: '"Lawrence L. Charity"'
Autor:
Lawrence L. Charity, Alan F. Scott, Eva K. Pressman, Cindy L. Berman, Gail Stetten, Laura Kasch, Karin J. Blakemore
Publikováno v:
American Journal of Medical Genetics. 68:76-81
We report on a de novo constitutional rearrangement involving the long arm of chromosome 7 in a second trimester fetus with the karyotype of 46,XX, inv dup del (7)(pter-q36::q36-q21.2:) pat. Both a large duplication (q21.2-q36) and a small deletion (