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Memorias del Instituto de Investigaciones en Ciencias de la Salud

versão On-line ISSN 1812-9528


MONJAGATA, N; ASCURRA, M; HERREROS, MB  e  DE TORRES, E. Mental retardation and cardiopathy in a carrier of a balanced translocation. Mem. Inst. Investig. Cienc. Salud [online]. 2005, vol.3, n.1, pp.58-60. ISSN 1812-9528.

The incidence of balanced reciprocal translocations is 1 for every 500 births. A percentage of them is diagnosed in adults consulting for reproductive problems, other are discovered fortuitously and many pass unnoticed because the carriers do not have either symptomatology or problems on conception and have normal descents. Only 5% of them deal with phenotypic anomalies, with or without mental retardation, attributable to an inactivation or loss of genes. Here we report the case of a 3-year-old girl and 6 months of age, carrier of a balanced reciprocal translocation between chromosomes 2 and 11, who consulted the service of Genetics for retardation of the psychomotor development and convulsion. To the physical examination the patient presented: CC: 46.5cm.(-2DS), size of 87 cm, percentile 3, clinodactyly of both fifth fingers, hypertrichosis and a systolic breath due to an tricuspid insufficiency and bicuspid aortic valves. The girl is the product of the third pregnancy of a young, non-consanguineous couple. She has and older brother who was 8 years old and presented the same cardiopathy and a 6-year-old brother with a systolic breath of unknown aetiology detected by auscultation. The chromosomal study of the patient, both parents and both brothers, was made by culture of peripheral blood. The slides were analyzed by conventional coloration and G and C bands. Thirty cells were examined per patient and a balanced reciprocal translocation balanced was found in the girl but not in the parents and brothers. Due to this, it was considered a de novo translocation. Karyotype: 46, XX, rcp (2; 11) (p11; p11). This case is reported for being of interest since the clinical characteristics of the girl are attributable to the chromosomal anomaly but not the cardiopathy and because the number of carriers of balanced reciprocal translocations affected is low.

Palavras-chave : Reciprocal translocation; Heart diseases; Mental retardation.

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