A Chinese patient with Toriello–Carey syndrome and an interstitial deletion of 3q. Issue 3 (17th October 2016)

• Record Type: Journal Article
• Authors: Xie, Lulu; Luo, Xianqiong; Yang, Jie; Wang, Junping; Nie, Chuan; Wang, Zhu
• Is Part Of: American journal of medical genetics. Volume 173:Issue 3(2017)
• Page Start: 721
• Page End: 726
• Publication Date: 2016-10-17
• Subjects: Toriello–Carey syndrome -- tracheal and laryngeal anomalies -- chromosomal abnormalities -- 3q12.1q21.3 deletion -- interstitial deletion 3q; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.38009
• Languages: English
• ISSNs: 1552-4825

Abstract

Abstract : Toriello–Carey syndrome (T–CS), which was first described by Toriello and Carey, is a rare multiple congenital anomaly syndrome characterized by agenesis of the corpus callosum, Pierre Robin sequence, unusual facial appearance, and other anomalies. Tracheal or laryngeal anomalies are reported as a common manifestation of T–CS. These anomalies can lead to respiratory distress and respiratory tract infection. The cause of T–CS is unknown, although there have been reports of patients with a clinical diagnosis of T–CS and a chromosome anomaly. We describe another such patient who was found to have an interstitial deletion of 3q (3q12.1‐q21.3). © 2016 Wiley Periodicals, Inc.