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Germline mosacism in Shprintzen–Goldberg syndrome
Author(s) -
Shanske Alan L.,
Goodrich James T.,
AlaKokko Leena,
Baker Stuart,
Frederick Barbara,
Levy Brynn
Publication year - 2012
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.35388
Subject(s) - germline , genetics , phenotype , etiology , germline mutation , biology , mutation , medicine , gene
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.