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Germline mosacism in Shprintzen–Goldberg syndrome


  • How to Cite this Article: Shanske AL, Goodrich JT, Ala-Kokko L, Baker S, Frederick B, Levy B. 2012. Germline mosacism in Shprintzen–Goldberg syndrome. Am J Med Genet Part A. 158A:1574–1578.


We report on maternal half-sibs born to unaffected, non-consanguineous parents with classical Shprintzen–Goldberg syndrome (SGS) who had in addition intestinal malrotation and an aberrant subclavian artery. In one other SGS family germline mosaicism has been described. SGS is molecularly heterogeneous and has been linked to mutations in three genomic loci. This suggests there may be multiple other genetic factors that result in a common clinical phenotype and a number of investigators have implicated a fourth region (15q25-qter) in the etiology of SGS. © 2012 Wiley Periodicals, Inc.