A Chinese patient with Toriello-Carey syndrome and an interstitial deletion of 3q

Am J Med Genet A. 2017 Mar;173(3):721-726. doi: 10.1002/ajmg.a.38009. Epub 2016 Oct 17.

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.

Keywords: 3q12.1q21.3 deletion; Toriello-Carey syndrome; chromosomal abnormalities; interstitial deletion 3q; tracheal and laryngeal anomalies.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Agenesis of Corpus Callosum / diagnosis*
  • Agenesis of Corpus Callosum / genetics*
  • China
  • Chromosome Banding
  • Chromosome Deletion*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 3*
  • Craniofacial Abnormalities / diagnosis*
  • Craniofacial Abnormalities / genetics*
  • Female
  • Genetic Association Studies*
  • Heart Defects, Congenital / diagnosis*
  • Heart Defects, Congenital / genetics*
  • Humans
  • Limb Deformities, Congenital / diagnosis*
  • Limb Deformities, Congenital / genetics*
  • Magnetic Resonance Imaging
  • Oligonucleotide Array Sequence Analysis
  • Pierre Robin Syndrome / diagnosis*
  • Pierre Robin Syndrome / genetics*
  • Polymorphism, Single Nucleotide
  • Tomography, X-Ray Computed
  • Ultrasonography, Prenatal
  • Urogenital Abnormalities / diagnosis*
  • Urogenital Abnormalities / genetics*

Supplementary concepts

  • Corpus Callosum, Agenesis of, with Facial Anomalies and Robin Sequence