Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism

Authors


  • How to Cite this Article: Al-Hertani W, McGowan-Jordan J, Allanson JE. 2012. Novel clinical findings in a case of postnatally diagnosed trisomy 12 mosaicism. Am J Med Genet Part A. 158A:1452–1454.

Abstract

We report on a girl with trisomy 12 mosaicism diagnosed postnatally. She has been followed from 4 months of age for developmental delay, unilateral sensorineural hearing loss, intestinal malrotation, hemi-hyperplasia, pigmentary dysplasia, retinopathy, and a vascular ring. To our knowledge, there have been no reports of complete trisomy 12 in the literature. However there have been a few reports describing the phenotype of individuals with trisomy 12 mosaicism. This case report is a description of the eighth liveborn individual diagnosed postnatally with this condition. © 2012 Wiley Periodicals, Inc.

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