ABSTRACT Chromosomal abnormalities are responsible for several congenital malformations in the world, some of these are associated to telomeric/subtelomeric deletions. The abnormalities involving the telomere of chromosome 12 are rare, with few reports of deletions involving 12q24.31 region in the literature, and, to our knowledge, only four of them in the 12q24.31-q24.33 region. We report a further case of interstitial deletion of bands 12q24.31-q24.33 associated with autism spectrum disorder. A 2-year-old boy with global developmental delay associated with multiple congenital […]

ABSTRACT Objectives: To evaluate the neuropsychomotor development of children treated in an outpatient clinic, using the Denver Developmental Screening Test II (DDST-R). Methods: This was an exploratory descriptive research using a quantitative approach, conducted in the outpatient clinic of the Project Einstein in the Community of Paraisopolis (PECP), São Paulo, Brazil. The sample consisted of 35 children, from birth to 6 years of age, most of them from 1 to 3 years old (19; 54.3%). They underwent the Denver II […]