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Translocation, t(4q−;13q+), in three generations resulting in partial trisomy of the long arm of chromosome 4 in the fourth generation

The karyotype of a child with severe mental retardation, microcephaly, minor facial anomalies, and urinary tract outflow obstruction was found to be 46,XY,13q+mat. Trypsin-Giemsa banding studies showed an inherited translocation, t(4q−;13q+), in several asymptomatic members of the family including t...

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Main Authors: Schrott, Helmut G., Sakaguchi, Sumiko, Francke, Uta, Luzzatti, Luigi, Fialkow, Philip J.
格式: Artigo
語言:Inglês
出版: 1974
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC1013119/
https://ncbi.nlm.nih.gov/pubmed/4135220
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