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The syndrome associated with the partial D-monosomy

✍ Scribed by D. J. Orbeli; I. W. Lurie; Ju. L. Goroshenko


Publisher
Springer
Year
1971
Tongue
English
Weight
776 KB
Volume
13
Category
Article
ISSN
0340-6717

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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