Lantigua CA, Sánchez PD, Méndez RLA, Torres RB, Tase VD, Icart PE

Language: Spanish
References: 16
Page: 48-56
PDF size: 578.08 Kb.

ABSTRACT

The karyotype phenotype correlation in patients with unbalanced chromosomal aberrations constitutes a valuable knowledge in the practice of clinical genetics, as clinical delineation and dysmorphic features that distinguish them, guide the clinical geneticist to propose an initial etiologic diagnosis, compared to the great diversity of genetic syndromes facing in their daily practice. However, most of the reports are performed in pediatric ages and there are not many publications that provide the opportunity to appreciate the changes that occur in their phenotype, or the deviations of development that might arise evolutionarily through their life cycle, in chromosomal aberrations witch very low frequency. The case that is presented, constitutes an example of evolutionary karyotype phenotype correlation that also takes into account the experience gained by reports of the application of molecular cytogenetic in cases of deletions involving the short arm of chromosome 9.

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