Barrios MA, Méndez RLA, Morales RE, González GN, González MS, Medina RY, Suárez MU

Language: Spanish
References: 15
Page: 47-50
PDF size: 246.86 Kb.

ABSTRACT

Sexual chromosomal anomalies are the most frequent ones at birth, having an estimated incidence of 1 in 300 to 400 pregnancies. Individuals with sexual chromosomal alterations present a wide phenotype range depending on the chromosome region size involved in the aberration as well as the genes localized at and around the breaking point. This paper aims to describe the cytogenetic finding in patients with genetic diseases associated to sex chromosomes. Three hundred chromosomal studies were carried out in the Cytogenetics Laboratory of the National Center of Medical Genetics by using the exogenous serum and GTG bands lymphocyte culture microtechnique, by means of standardized laboratory techniques. From the studied cases in 81 (27 %) of them, sex chromosomes were involved; 56 (18,6 %) corresponded to patients with numerical aberrations, while 25 (8,33 %) were structural aberrations. The pure 45,X aneuploidy constituted 15 % while 3,6 % were mosaic ones, with deletions constituting the X chromosome most frequent structural anomaly.

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