De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease. Issue 1 (December 2015)

• Record Type: Journal Article
• Authors: Peng, Ying; Ma, Ruiyu; Zhou, Yingjie; Xia, Yan; Wen, Juan; Zhang, Yanghui; Guo, Ruolan; Li, Haoxian; Pan, Qian; Zhang, Rui; Tang, Chengyuan; Liang, Desheng; Wu, Lingqian
• Is Part Of: Molecular cytogenetics. Volume 8:Issue 1(2015)
• Page Start: 1
• Page End: 6
• Publication Date: 2015-12
• Subjects: Ring chromosome 11 -- Non-reciprocal translocation -- Congenital heart disease -- 11q terminal deletions; Cytogenetics -- Periodicals; Chromosomes -- Periodicals; Molecular genetics -- Periodicals; 572.805
• DOI: 10.1186/s13039-015-0191-y
• Languages: English
• ISSNs: 1755-8166

Abstract

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. Case Presentation 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.