Germline mosacism in Shprintzen-Goldberg syndrome.
Publication/Presentation Date
7-1-2012
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.
Volume
158A
Issue
7
First Page
1574
Last Page
1578
ISSN
1552-4833
Published In/Presented At
Shanske, A. L., Goodrich, J. T., Ala-Kokko, L., Baker, S., Frederick, B., & Levy, B. (2012). Germline mosacism in Shprintzen-Goldberg syndrome. American journal of medical genetics. Part A, 158A(7), 1574–1578. https://doi.org/10.1002/ajmg.a.35388
Disciplines
Medicine and Health Sciences
PubMedID
22639450
Department(s)
Department of Pathology and Laboratory Medicine
Document Type
Article