[Show abstract][Hide abstract] ABSTRACT: Background
Partial duplication 1q is a rare cytogenetic anomaly frequently associated to deletion of another chromosome, making it difficult to define the precise contribution of the different specific chromosomal segments to the clinical phenotype.
We report a clinical and cytogenomic study of a patient with multiple congenital anomalies, heart defect, neuromotordevelopment delay, intellectual disability, who presents partial trisomy 1q32 and partial monosomy 11q25 inherited from a paternal balanced translocation identified by chromosome microarray and fluorescence in situ hybridization.
Compared to patients from the literature, the patient’s phenotype is more compatible to the 1q32 duplication’s clinical phenotype, although some clinical features may also be associated to the deleted segment on chromosome 11. This is the smallest 11q terminal deletion ever reported and the first association between 1q32.3 duplication and 11q25 deletion in the literature.
[Show abstract][Hide abstract] ABSTRACT: Many students have struggled with mathematics along school years. The achievement of mathematical competences depends not only upon the acquisition of knowledge on numerical concepts, calculation procedures and arithmetical rules, but also upon the development of specific cognitive skills, such as those related to problem-solving and visuospatial processing. Such functions are often impaired in cases of brain damage during childhood, depending on variables such as the extent and location of cerebral lesions. Discussions regarding possible associations 1 firstname.lastname@example.org 2 email@example.com
[Show abstract][Hide abstract] ABSTRACT: The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature.
We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15.
This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.
[Show abstract][Hide abstract] ABSTRACT: In order to calculate the correlation between the Estimated IQ and the Full Scale IQ of children submitted to the WISC III, four different data banks with a total of 207 children were integrated: (1) typically developing children, (2) children diagnosed as having Attention Deficit/ Hyperactivity Disorder, (3) children identified by private clinics as having learning disabilities (4) children with neurological sequelae diagnosed by a public university outpatient treatment program. Results suggest that the Estimated IQ, which is based on the weighted sum of the subtest scores of Cubes and Vocabulary, may be used in the presence of time constraints, when intellectual performance is important for screening in research procedures, and as a reference within a broader neuropsychological evaluation.
Psicologia Teoria e Pesquisa 06/2011; 27(2):149-155. DOI:10.1590/S0102-37722011000200002
[Show abstract][Hide abstract] ABSTRACT: We present a 20-year follow-up on a patient with a ring chromosome 14. The ring chromosome was studied by fluorescence in-situ hybridization (FISH), multiplex-ligation probe amplification (MLPA), and genome wide SNP array, and no deletions of chromosome 14 were detected, although the telomeric repeat sequence was absent from the ring chromosome. The patient had skeletal abnormalities, and susceptibility to infections, as well as seizures and retinal pigmentation, which are commonly found in individuals with a ring 14. Our patient corroborates the idea that even when no genes are lost during ring formation, a complete ring chromosome can produce phenotypic alterations, which presumably result from ring instability or gene silencing due to the new chromosomal architecture.
American Journal of Medical Genetics Part A 11/2010; 152A(11):2865-9. DOI:10.1002/ajmg.a.33689 · 2.16 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: During development, children become capable of categorically associating stimuli and of using these relationships for memory recall. Brain damage in childhood can interfere with this development. This study investigated categorical association of stimuli and recall in four children with brain damages. The etiology, topography and timing of the lesions were diverse. Tasks included naming and immediate recall of 30 perceptually and semantically related figures, free sorting, delayed recall, and cued recall of the same material. Traditional neuropsychological tests were also employed. Two children with brain damage sustained in middle childhood relied on perceptual rather than on categorical associations in making associations between figures and showed deficits in delayed or cued recall, in contrast to those with perinatal lesions. One child exhibited normal performance in recall despite categorical association deficits. The present results suggest that brain damaged children show deficits in categorization and recall that are not usually identified in traditional neuropsychological tests.
Arquivos de neuro-psiquiatria 10/2009; 67(3A):621-5. DOI:10.1590/S0004-282X2009000400009 · 0.84 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: The aim of this study was to evaluate clinical and neuropsychological findings in children with suspicion of attention deficity hyperactivity disorder (ADHD). The assessment involved 150 children aged 7 to 14 referred to NANI at UNIFESP. RESULTS: 75 children (55 M and 20 F) fulfilled the criteria for ADHD, among which 35 were of the inattentive type, 28 of combined type and 12 were hyperactive/impulsive. There was negative correlation between the digit score and the Corsi test. Children with hyperactivity and impulsivity had a low performance for functional memory. Children with oppositional defiant disorder presented pattern changes in adaptability when there was a change in the rhythm the stimuli were presented and lower adaptation to time variability (Hit RT), in addition to higher rates of omission in the continuous performance test. CONCLUSION: This study suggests multiple interrelations between the scores of neuropsychological battery useful for detailed delimitation of the clinical profile of children with ADHD.
Arquivos de neuro-psiquiatria 01/2009; 66(4):821-7. DOI:10.1590/S0004-282X2008000600009 · 0.84 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Several authors have attempted to characterize the partial 1q trisomy syndrome, reporting clinical features such as mental retardation, macrocephaly, large fontanels, prominent forehead, broad flat nasal bridge, high-arched palate, micro/retrognathia, low-set ears, and cardiac defects. However, defining the partial trisomy 1q syndrome is difficult, because it is a rare chromosomal abnormality and in most instances the trisomy 1q is combined with partial monosomy of another autosomal segment. We report on the clinical and molecular cytogenetic study of a patient who presents pure partial 1q duplication. This is the first case of pure duplication 1q41-qter in the literature.
American Journal of Medical Genetics Part A 10/2008; 146A(20):2663-7. DOI:10.1002/ajmg.a.32510 · 2.16 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Alzheimer's disease (AD) is a degenerative brain disorder characterized by progressive losses in cogni- tive functions, including memory. The sequence of these losses may correspond to the inverse order of the normal sequence of ontogenetic cognitive acquisitions, a process named retrogenesis. One of the acquisitions that improve in normal development is the ability to retrieve previously acquired categorical knowledge from semantic memory in order to guide associative thinking and memory processes; consequently, children become able to associate verbal stimuli in more complex taxonomic ways and to use this knowledge to improve their recall. Objective: In this study, we investigated if AD-related deterioration of semantic memory involves a decrease in categorical thinking processes with progression of the disease, according to the retrogenesis hypothesis. Methods: We compared the performance of AD patients at mild and moderate stages, and of groups of 7, 10 and 14-year-old children in tasks of free association along with recall tasks of perceptually and semantically related stimuli. Results: ANOVAS showed a decrease in taxo- nomic associations and an increase in diffuse associations between mild and moderate stages, corresponding to the inverse order shown by the child groups. At the moderate AD stage, the pattern was similar to that of 7-year-old chil- dren. Both groups of patients performed worse than child groups in recall tasks. Conclusions: These results corrobo- rate the hypothesis of an involution of the processes of categorical associative thinking in the course of the disease.