title: De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.
abstract: BACKGROUND
  Ring chromosome 11[r (11)] is a rare chromosomal abnormality that forms when both arms of chromosome 11 break, and then reunite with each other. Once a ring chromosome forms, the distal ends of both arms of the chromosome are usually lost.
  
  
  METHODS
  We reported a 12 years old girl patient with congenital heart disease and distinctive facial features. Cytogenetic and molecular analyses using standard G-banding, fluorescence in situ hybridization and Single nucleotide polymorphism array were performed to identify genetic causes in the patient. The patient carried r(11)(p15.3q24.1) and 11p15.3-pter non-reciprocal translocation to 21qter, accompanied with 8.9 Mb deletion of 11q24.2q25. A literature review was performed to establish genotype-phenotype correlations of the r (11) and 11q terminal deletion syndrome.
  
  
  CONCLUSIONS
  To the best of our knowledge, this is the first case of non-reciprocal translocation with a terminal deletion in r (11). These findings provide important information for genetic counseling for this family, and may improve our understanding of the genotype-phenotype correlation of ring chromosome 11 disorders.
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Peng
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Ruiyu
authors.initials: R
authors.lastname: Ma
authors.affiliation: The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei P.R. China.
authors.forename: Yingjie
authors.initials: Y
authors.lastname: Zhou
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Yan
authors.initials: Y
authors.lastname: Xia
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Juan
authors.initials: J
authors.lastname: Wen
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Yanghui
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Ruolan
authors.initials: R
authors.lastname: Guo
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Haoxian
authors.initials: H
authors.lastname: Li
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Pan
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Rui
authors.initials: R
authors.lastname: Zhang
authors.affiliation: Department of Nephrology, The Second Xiangya Hospital, Central South University, Changsha, Hunan P.R. China.
authors.forename: Chengyuan
authors.initials: C
authors.lastname: Tang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Desheng
authors.initials: D
authors.lastname: Liang
authors.affiliation: State Key Laboratory of Medical Genetics, Central South University, 110 Xiangya Rd., Changsha, Hunan 410078 China.
authors.forename: Lingqian
authors.initials: L
authors.lastname: Wu
keywords: 11q terminal deletions; Congenital heart disease; Non-reciprocal translocation; Ring chromosome 11