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.

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 correlati

SUBMITTER: Peng Y 

PROVIDER: S-EPMC4638084 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature