The first case is reported of a karyotype containing two apparently unrelated reciprocal translocations, involving chromosomes 1, 2, 5, and 7. It is suggested that the patient's psychomotor retardation and microcephaly may be the result of the loss of a small amount of chromosomal material accompanying these translocations.

We report here a 34-month-old boy with global developmental delay referred for molecular karyotyping and fragile X studies. Molecular karyotype analysis revealed a microduplication in the 3p26.3 region involving part of the CHL1 and CNTN6 genes. Several deletions, one translocation, and one duplication have previously been described in this region of chromosome 3. The CHL1 gene has been propose...

OBJECTIVE To retrieve the origin of the term neuropsychomotor developmental delay" (NPMD), its conceptual evolution over time, and to build a conceptual map based on literature review. DATA SOURCE A literature search was performed in the SciELO Brazil, Web of Science, Science Direct, OneFile (GALE), Pubmed (Medline), Whiley Online, and Springer databases, from January of 1940 to January of 20...

Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same chromosome is a rare occurrence. The presence of both abnormalities in the same family has never been reported, to our knowledge. We report a rare occurrence of 22q13.3 duplication and 22q13.3 deletion in siblings, as a consequence of a mother's inversion on her 22nd chro...

objective the purpose of this study was to determine the prevalence and the most common risk factors of motor developmental delay in infants. materials & methods following ethical approval, a study was carried out on the prevalence and risk factors of infants with motor developmental delay. the first stage was conducted through a cross-sectional study to determine the prevalence of motor develo...

A central problem in neuropsychology concerns the mechanisms by which functions are restored following injury to the brain. Functional recovery is particularly striking following damage to the cerebrum in early life and accordingly our studies deal with the effects of prefrontal cortical lesions performed on infant monkeys. We describe here two essentially different patterns of behavioral recov...

The aim of the present study was to examine the contribution of genetic and environmental factors to depressive symptoms among older women. The participants were 102 monozygotic and 115 dizygotic female twin pairs aged 64 to 76 years. Depressive symptoms were assessed by the Center for the Epidemiologic Studies Depression Scale. The contribution of genetic and environmental effects was estimate...

Erect posture in man is a recent affordance from an evolutionary perspective. About eight million years ago, the stock from which modern humans derived split off from the ape family, and from around sixty-thousand years ago, modern man developed. Upright gait and manipulations while standing pose intricate cybernetic problems for postural control. The trunk, having an older evolutionary history...

Locomotor systems generate diverse motor patterns to produce the movements underlying behavior, requiring that motor neurons be recruited at various phases of the locomotor cycle. Reciprocal inhibition produces alternating motor patterns; however, the mechanisms that generate other phasic relationships between intrasegmental motor pools are unknown. Here, we investigate one such motor pattern i...

A patient with a deletion (13)(q21.3q31) showed only eczema and absent suck and swallowing reflex, in contrast to other well documented cases with a similar deletion. Apparently there is wide clinical variability in patients with deletions in this area.