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ISSN 2070-8718 (Print)

2010, Number 3

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Rev Cub Gen 2010; 4 (3)

Structural chromosomal reordering frequencies following the recommendations for prenatal and postnatal cytogenetic studies

Quiñones MOL, Quintana AJ, Méndez RLA, Barrios MA, Suárez MU, García M, del Sol M

Language: Spanish
References: 23
Page: 36-42
PDF size: 352.96 Kb.


ABSTRACT

Structural chromosomal aberrations are of great importance due to the risk for carriers to have offspring with unbalanced reordering and nevertheless, they have not been studied in depth. In this paper the frequency of structural aberrations is described following the indication of why the case was sent to the laboratory. The source of information was the data from the registers from Cytogenetics Laboratories of the National Medical Genetics Center and the corresponding provincial one in Havana City and data were acquired manually from an Excel database. From the 23.403 cytogenetic diagnoses carried out (72,4% for prenatal studies and 27,6% for postnatal studies) 249 aberrations were identified for a frequency value equal to 1,1%, the majority of them diagnosed in postnatal studies (59,4%). The largest frequencies of structural aberrations were detected in the cases of carriers relatives (48,6%) and father carrier of structural chromosomal reordering (40,0%); while in the case of reproductive disorders (0,8%), they were less than the values reported in the literature. The indications of prenatal cytogenetic studies for the case of a father, carrier of structural chromosomal reordering and the case of ultrasonographic findings with congenital malformations associated to chromosomopathy showed the highest frequencies of structural unbalanced chromosomal anomalies.


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