title: A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q.
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.
authors.affiliation: NICU, Guangdong Women and Children Hospital of Guangzhou Medical University, Guangdong, China.
authors.forename: Lulu
authors.initials: L
authors.lastname: Xie
authors.affiliation: NICU, Guangdong Women and Children Hospital of Guangzhou Medical University, Guangdong, China.
authors.forename: Xianqiong
authors.initials: X
authors.lastname: Luo
authors.affiliation: NICU, Guangdong Women and Children Hospital of Guangzhou Medical University, Guangdong, China.
authors.forename: Jie
authors.initials: J
authors.lastname: Yang
authors.affiliation: NICU, Guangdong Women and Children Hospital of Guangzhou Medical University, Guangdong, China.
authors.forename: Junping
authors.initials: J
authors.lastname: Wang
authors.affiliation: NICU, Guangdong Women and Children Hospital of Guangzhou Medical University, Guangdong, China.
authors.forename: Chuan
authors.initials: C
authors.lastname: Nie
authors.affiliation: NICU, Guangdong Women and Children Hospital of Guangzhou Medical University, Guangdong, China.
authors.forename: Zhu
authors.initials: Z
authors.lastname: Wang
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000235:genetics*; D002681:China; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D019465:Craniofacial Abnormalities / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D020411:Oligonucleotide Array Sequence Analysis; D010855:Pierre Robin Syndrome / Q000175:diagnosis* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D014057:Tomography, X-Ray Computed; D016216:Ultrasonography, Prenatal; D014564:Urogenital Abnormalities / Q000175:diagnosis* / Q000235:genetics*
keywords: 3q12.1q21.3 deletion; Toriello-Carey syndrome; chromosomal abnormalities; interstitial deletion 3q; tracheal and laryngeal anomalies