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ISSN 2070-8718 (Print)

2012, Number 3

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Rev Cub Gen 2012; 6 (3)

Sexual chromosomal aneuploidies in the Camagüey province: 25 years experience of postnatal diagnosis

Pérez EO, Consuegra ME, Pimentel BH, Martín CN, Arrieta GR

Language: Spanish
References: 18
Page: 39-43
PDF size: 410.53 Kb.


ABSTRACT

Aneuploidies of sex chromosomes are among the most common chromosomal anomalies and at present the peripheral blood karyotype is the first line of study for the detection of these health disorders. The objective of this work was to describe the results of the postnatal cytogenetic diagnosis of sexual chromosomal aberrations performed in the Camagüey province during 25 years of continuous work. A transversal descriptive study was performed beginning with peripheral blood karyotypes, the chromosomal formulas were determined, and the motives for the indication and diagnosis age were also considered. The universe included three hundred fifty patients presenting some alteration in their chromosomal constitution, while the sample was composed of 108 patients that turned out to be positive for sexual chromosomal aberrations. Resultant data were processed, analyzed and displayed in graphs and tables. Of the chromosomopathies already described, Turner’s syndrome and its varieties was the more represented, followed by Klinefelter’s syndrome; the most frequent indications were due to clinical signs of the mentioned entities and diagnoses were fundamentally carried out for patients between 11 and 20 years old. During the last 4 years sexual chromosomal aberrations have decreased their impact; nevertheless they must be suspected in early life stages in order to improve medical care and the quality of life of affected patients.


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