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Boletín médico del Hospital Infantil de México
versão impressa ISSN 1665-1146
Resumo
CAMMARATA-SCALISI, Francisco et al. Trisomy 13 mosaicism. Bol. Med. Hosp. Infant. Mex. [online]. 2019, vol.76, n.5, pp.246-250. Epub 13-Mar-2020. ISSN 1665-1146. https://doi.org/10.24875/bmhim.19000003.
Background:
Trisomy 13 is a chromosomal alteration with an incidence of 1 in 10,000 to 20,000 births. It can occur completely, partially or in mosaicism; the latter occurs when a percentage of cells are trisomic for chromosome 13, while the rest are euploid in an individual and corresponds to only 5% of all cases. Patients with trisomy 13 present a wide variable expressivity, ranging from severe malformations with early death (phenotype similar to the complete form and more frequent), to normal development and few dysmorphic findings.
Case reports:
The clinical and cytogenetic findings of two new cases of trisomy 13 mosaicism are described.
Conclusions:
The importance of prenatal diagnosis, clinical findings, and interdisciplinary medical evaluation is highlighted, as well as an appropriate genetic counseling.
Palavras-chave : Trisomy 13; Mosaicism; Prenatal diagnosis; Clinical; Genetic counseling.