Abstract

CAMMARATA-SCALISI, Francisco et al. Mosaic trisomy 18: Series of cases. Arch. argent. pediatr. [online]. 2017, vol.115, n.3, pp.e183-e186. ISSN 0325-0075.  http://dx.doi.org/10.5546/aap.2017.e183.

Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others. The mosaic T18 occurs when cells with T18 and normal cell lines exist in the same individual and correspond to 5% of cases. The phenotypic findings are highly variable and no correlation was evident between the percentage of trisomic cells and the findings found. The aim of this report is to present a series of five cases of mosaic T18 with emphasis on clinical aspects in order to guide an interdisciplinary adequate medical care and provide timely genetic counseling.

Keywords : Trisomy 18; Mosaicism; Genetic counseling.

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