Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18. Issue 3 (March 2017)

• Record Type: Journal Article
• Authors: Akkurt, Mehmet Ozgur; Higgs, Amanda; Turan, Ozerk T.; Turan, Ozhan M.; Turan, Sifa
• Is Part Of: American journal of medical genetics. Volume 173:Issue 3(2017)
• Page Start: 776
• Page End: 779
• Publication Date: 2017-03
• Subjects: inverted duplication deletion 8p -- microarray -- polyvalvular dysplasia -- prenatal diagnosis -- trisomy 18; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38074
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Inverted duplication deletion of 8p (invdupdel[8p]) is a well‐described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life‐threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life. In this case, we also emphasize the diagnostic power of microarray analysis in detecting the underlying genetic causes for fetuses with multiple congenital anomalies. © 2017 Wiley Periodicals, Inc.