Introduction:

chromosomal alterations both in number and structure are an important cause of morbidity and mortality. They affect approximately one out of every two-hundred live newborns, being the main cause of intellectual disability.

Objective:

to describe the cytogenetic diagnosis in a patient affected with intellectual disability.

Case report:

a 6-year-old child who was taken for genetic counseling due to intellectual disability, dysmorphias and short small height. Genetic clinical history was taken; clinical method and cytogenetic diagnosis were applied; GTG chromosome banding was applied and 25 metaphases were analyzed. A structural chromosomal aberration (complex translocation) was diagnosed in 25 metaphases studied, showing the presence of four (4) autosomal chromosomes involved and the breakpoints: 46,XX, t(7;10;14;18)(p22;q11.1;q31;q11.1).

Conclusions:

the study made possible to provide a diagnosis, define the risk of recurrence in the offspring and improve treatment, supporting the importance of genetic counseling which is a significant tool at primary health care level.

        · resumo em Espanhol     · texto em Espanhol     · Espanhol ( pdf )