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Am J Med Genet A. 2012 Jul;158A(7):1574-8. doi: 10.1002/ajmg.a.35388. Epub 2012 May 25.

Germline mosacism in Shprintzen-Goldberg syndrome.

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1
Center for Craniofacial Disorders, Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York 10804, USA. ashanske@aol.com

Abstract

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.

PMID:
22639450
DOI:
10.1002/ajmg.a.35388
[Indexed for MEDLINE]
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