Assignment of a locus for dominantly inherited venous malformations to chromosome 9p |
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| Authors: | Boon, Laurence M. Mulliken, John B. Vikkula, Milkka Watkins, Hugh Seidman, John Olsen, Bjorn R. Warman, Matthew L. |
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| Affiliation: | 1Division of Plastic Surgery, Children's Hospital, Harvard Medical School Boston, MA 02115, USA 2Department of Cell Biology, Children's Hospital, Harvard Medical School Boston, MA 02115, USA 3Department of Genetics, Children's Hospital, Harvard Medical School Boston, MA 02115, USA 4Division of Genetics, Children's Hospital, Harvard Medical School Boston, MA 02115, USA |
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| Abstract: | Venous malformation is the most common type of vascular anomaly.Depending upon size and location, these slow-flow anomaliesmay cause pain, anatomic distortion, or threaten life. Mostvenous malformations occur sporadically and present as solitarylesions. They also occur in several syndromes, some of whichdemonstrate Mendelian inheritance. We have mapped the locusfor an autosomal dominant disorder in a three generation familythat manifests as multiple cutaneous and mucosal venous malformations.This locus lies within a 24 cM interval on chromosome 9p, definedby the markers D9S157 and D9S163. The |
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