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2011, Number 1

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Rev Cub Gen 2011; 5 (1)

X-Chromosomal polysomies: Presentation of two cases

Chiong QCM, Soriano TM, Martín CNH, Mendoza DLM, Medina AF

Language: Spanish
References: 18
Page:
PDF size: 264.85 Kb.


ABSTRACT

The 48, XXXY and 49, XXXXY syndromes are unusual aneuploidies of sexual chromosomes also known as X polysomies, clinically characterized by mental retardation, cranium-facial anomalies, skeletal defects, and hypogonadism. In this paper we present a report on two patients with clinical and cytogenetic diagnosis of this disease. The environmental influence in the prognosis of the genetic disease disabilities is highlighted. We also emphasize the importance of identifying the typical clinical manifestations of these sexual chromosomal polysomies and prescribing a cytogenetic study for confirmation, in order to establish an early diagnosis, to offer the family an adequate genetic counselling and a suitable evaluation in all fields of medicine related to this syndrome as a preventive measure.


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