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ISSN 2070-8718 (Print)

2011, Number 3

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Rev Cub Gen 2011; 5 (3)

Clinical and genetic characterization of Down’s syndrome in the Plurinational State of Bolivia

Taboada LN, Licea RMA, Acosta CO, Pérez EO, Díaz SR, Rodríguez VLJ, Benítez RY, Pérez GJB, Bravo TO

Language: Spanish
References: 18
Page: 82-88
PDF size: 516.26 Kb.


ABSTRACT

Down’s syndrome or trisomy 21 was the first chromosomal origin syndrome described and also the most frequent cause of genetic origin intellectual disability. An observational, descriptive, cross-sectional study was performed, which included the 1 926 Down’s syndrome cases identified by the clinical-genetic and psychosocial support to people with disabilities carried out in Bolivia by the Misión Solidaria del ALBA Moto Méndez in the periods from November to December 2009 and March to August 2010. Most people identified with this syndrome were under 15 years of age, with the highest frequency in the 5 to 14 years old group. More than half of cases had a moderate degree of severity of intellectual disability and the largest number of mothers gave birth to their offspring being between 20 and 34 years old. In about one out of every 37 persons with this syndrome a first-degree family history of intellectual disability was reported, approximately half of them with intellectual disability due to other causes, while eight cases had another sibling with this syndrome. In the chromosomal study performed it was found that three pairs of siblings had a free trisomy, while in two pairs of siblings the disability was due to a chromosomal translocation.


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