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Memorias del Instituto de Investigaciones en Ciencias de la Salud

On-line version ISSN 1812-9528

Abstract

TORRES, E; RODRIGUEZ, S  and  MONJAGATA, N. Tetralogy of Fallot associated with distal duplication of the long arm of chromosome 11. Mem. Inst. Investig. Cienc. Salud [online]. 2015, vol.13, n.1, pp.83-87. ISSN 1812-9528.  https://doi.org/10.18004/Mem.iics/1812-9528/2015.013(01)83-087.

Tetralogy of Fallot is a common heart disease and may represent up to 11 to 13% of all clinical congenital cardiopathies, it occurs in about 1 out of every 8,500 live births. In most cases is associated with a microdeletion of chromosome 22 and less frequently with Down syndrome. Syndrome Dup11q is a chromosomal abnormality caused by duplication of the distal end of the long arm of chromosome 11 resulting in a partial trisomy, product of a chromosomal imbalance, with dysfunction of the genes involved in this additional genetic material causing both physical and mental abnormalities in a newborn. This is the case of a 3-month boy who was referred to genetic consultation due to syndromic phenotype, Tetralogy of Fallot and growth retardation. The cytogenetic study was performed in peripheral blood. Chromosomes were processed with conventional staining techniques, centromeric and high-resolution bands, showing 11q duplication. Karyotype: 46, XY, dup11 (q23àqter). We emphasize the importance of chromosomal studies in infants with major congenital malformations for a subsequent accurate diagnosis and genetic counseling to parents.

Keywords : duplication; trisomy; chromosome 11q.

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