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A Chinese patient with Toriello–Carey syndrome and an interstitial deletion of 3q
Author(s) -
Xie Lulu,
Luo Xianqiong,
Yang Jie,
Wang Junping,
Nie Chuan,
Wang Zhu
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.38009
Subject(s) - psychology , history , medicine , linguistics , philosophy
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.