Licourt OD, Travieso TA, Mitjans TMC, Miñoso PS, Toledo TZ

Language: Spanish
References: 0
Page: 192-197
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ABSTRACT

Ring chromosome 13 is a structural chromosomal abnormality, which is characterized by the breaking of the terminal regions of both arms and the fusion of them. A case is presented with microcephaly; which etiology is due to ring chromosome 13. A review of 12 bibliographic citations was made in the database of Pubmed, OMIM, among others, during the period between January and May 2017, it was based on the clinical and genetic characteristics of the entity. To perform the etiological diagnosis, dysmorphological and complementary tests were performed, including the cytogenetic study in peripheral blood, by banding Giemsa with a resolution between 450 and 550 bands, observing the number and structure of chromosomes in more than 8 metaphases under a microscope. Clinically, this chromosomal abnormality was characterized by the presence of microcephaly and other associated dysmorphic signs in the skull and face. The genetic etiology given by a structural chromosomal abnormality, specifically chromosome 13 in the form of a ring, was described. Knowledge of this rare entity is important to guarantee the early diagnosis so as to lead to a better quality of life and to avoid the sequelae it provokes.