Rare copy number variations: maternal microduplication 20p13 region in a patient with complex heart disease and bronchial anomaly

This paper presents clinical data and molecular-cytogenetic description of rare microduplication 20p13 region in a patient with complex heart disease, bronchial anomaly, dysmorphic phenotypic traits, hydrocephalus. Materials and methods. A 4-month-old patient underwent a full-genomic analysis using high-resolution DNA microarrays SurePrint G3 Human Genome CGH + SNP Microarray Kit, 8 х 60K. Results. The microduplication inherited from the mother includes 46 genes. The patient’s phenotype and medical history can be partially explained by the genes involved in rearrangement. The duplication of the genes GnRH-II, OXT in the mother could affect the premature birth of the child. Genes EBF4, CENPB participate in the processes of cell division and cell migration, activation of the MAP-kinase pathway, and thus can be involved in embryogenesis. The gene ADAM33 influences the intercellular interactions in the lungs and is possibly associated with the development of bronchial abnormalities in the child. Further monitoring of the patient and a mother’s examination will make it possible to clarify the effect of microduplication 20p13 on the phenotype.

вариации числа копий повторов, врожденные пороки сердца, микродупликация, 20p13, GnRH-II, гонадотропин-рилизинг гормон, Copy number variations, congenital heart defects, microduplication, 20p13, GnRH-II, gonadotropin-releasing hormone

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