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Updated: Aug 15, 2026

Spectral Karyotyping to Study Chromosome Abnormalities in Humans and Mice with Polycystic Kidney Disease
Published on: February 3, 2012
[Poland's syndrome. Clinical and genetic studies; physiopathologic considerations]
Abstract:
Study of malformations of the hand makes possible the definition of three forms of progressive severity in the Poland syndrome, in which there is unilateral symbrachydactylie associated with homolateral aplasia of the pectoralis major. The three forms share the predominance of involvement of the 2nd, 3rd and 4th fingers. The existence of alterations in palmar creases and dermatoglyphia of the involved side alone confirms the absence of any lesion, even infra-clinical, of the other hand. Genetic study favours a pluri-factorial inheritance. Topographical data and the comparative study of vascularisation suggest the possibility of hypoplasia of the proximal portion of the sub-clavian at the origin of this malformative association.
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