Article
Two unrelated children with partial trisomy 1q and monosomy 6p, presenting with the phenotype of the Larsen syndrome.
Human genetics - 1 Sept 1991
Pierquin G, Van Regemorter N, Hayez-Delatte, Fourneau C, Bormans J, Foerster M, Damis E, Cremer-Perlmutter N, Lapiere C M, Vamos E
Abstract excerpt
Two unrelated children presented with similar clinical features (facial dysmorphism and multiple joint dislocations) suggesting the diagnosis of Larsen syndrome. Both carried an inherited unbalanced translocation resulting in partial trisomy 1q and partial monosomy 6p. Analysis of skin collagen from one of the probands disclosed a decreased alpha 1/alpha 2 chain ratio of collagen type I, increased thermal...
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