Pimentel BH, Arrieta GR, Paz RM, Trull MFA, Lechuga CG, Pam PA

Language: Spanish
References: 10
Page: 59-62
PDF size: 478.07 Kb.

ABSTRACT

Mixoploidy is a rare chromosomal disorder cytogenetically characterized as a mosaic of a diploid cellular line and a polyploid one, the most frequent combinations being 2n/3n and 2n/4n. The present report corresponds to a case that implies the existence of a triploid line. The objective of the report was to describe the ultrasonographic findings observed during the first trimester of intrauterine life, in a mixoploid fetus having a 2n/3n karyotype, and to outline the clinical phenotype found as a result of the pathologic anatomy examination carried out to the first prenatal diagnosis case of this infrequent case reported in the province and the country. Clinical case: pregnant woman to whom a prenatal cytogenetic study was carried out due to the existence of ultrasonographic markers predictive of chromosomal disorders. A giemsa-tripsine chromosomal banding technique was carried out and 200 metaphases were analyzed. The fetal chromosomal formula 69,XXY[94 %]/46,XY[6 %] was established cytogenetically, and after genetic counseling the couple decided to accept the pregnancy termination. The anatomic pathology examination corroborated and revealed the presence of several clinical signs indicators of malformations associated to the entity. The contribution of findings from ultrasonographic determinations carried out in earlier pregnancy stages, compel investigators to apply interdisciplinary diagnostic methodologies that constitute suggestive instruments for the etiologic analysis of unspecific malformation syndromes in our environment.

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