A patient with an interstitial deletion of the short arm of chromosome 6 |
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| Authors: | E. van Swaay G. C. Beverstock J. J. P. van de Kamp |
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| Affiliation: | Juliana Children's Hospital, The Hague, The Netherlands. |
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| Abstract: | The clinical history and subsequent progress of a child with an interstitial deletion in the short arm of chromosome 6 is described. This abnormality coupled with a reduced Hageman factor (Factor XII) led to an earlier publication which suggested that this gene was localized to the breakpoint region involved. A review of similar phenotypes from the literature is presented. |
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| Keywords: | clinical history deletion 6p Factor XII review literature |
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