ArticleMolecular cytogenetics2015
De Novo ring chromosome 11 and non-reciprocal translocation of 11p15.3-pter to 21qter in a patient with congenital heart disease.
Article in Molecular cytogenetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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3 citing papers in PubMed, 5 citations in OpenAlex.
- Clinical and molecular characterization of 12 prenatal cases of Cri-du-chat syndrome.Molecular genetics & genomic medicine · 2020Article
- Detection of copy number variants using chromosomal microarray analysis for the prenatal diagnosis of congenital heart defects with normal karyotype.Journal of clinical laboratory analysis · 2019Article
- Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.Molecular syndromology · 2017Article
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13 authors at 3 institutions in 1 country.
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Abstract
backgroundRing 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.
conclusionsTo 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.
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