Nonspecific phenotype of Noonan syndrome diagnosed by whole exome sequencing. Issue 4 (2nd February 2015)

• Record Type: Journal Article
• Authors: Coromilas, Alexandra; Wynn, Julia; Haverfield, Eden; Chung, Wendy K.
• Is Part Of: Clinical case reports. Volume 3:Issue 4(2015:Aug.)
• Page Start: 237
• Page End: 239
• Publication Date: 2015-02-02
• Subjects: Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.205
• Languages: English
• ISSNs: 2050-0904

Abstract

<abstract abstract-type="main" id="ccr3205-abs-0001"> <title>Key Clinical Message</title> <p>Noonan syndrome is a genetically heterogeneous condition primarily due to missense mutations in <italic>PTPN11</italic>. Prenatal diagnosis is typically made in a fetus with increased nuchal translucency and normal karyotype. We demonstrate the ability of whole exome sequencing to make prenatal diagnoses that would not have been made from phenotype alone.</p> </abstract>