A patient with an interstitial deletion of the short arm of chromosome 6
- 1 February 1988
- journal article
- case report
- Published by Wiley in Clinical Genetics
- Vol. 33 (2), 95-101
- https://doi.org/10.1111/j.1399-0004.1988.tb03418.x
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.Keywords
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