Germline mosacism in Shprintzen-Goldberg syndrome

Alan L. Shanske, James T. Goodrich, Leena Ala-Kokko, Stuart Baker, Barbara Frederick, Brynn Levy

Research output: Contribution to journalArticlepeer-review

8 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1574-1578
Number of pages5
JournalAmerican Journal of Medical Genetics, Part A
Volume158 A
Issue number7
StatePublished - Jul 2012


  • Chromosome 15
  • FBN1
  • Germline mosaicism
  • Shprintzen-Goldberg syndrome
  • TGFBR1/2
  • Tetrasomy

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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