Claudia Berlim de Mello

Universidade Federal de São Paulo, San Paulo, São Paulo, Brazil

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Publications (10)11.3 Total impact

  • [Show abstract] [Hide abstract]
    ABSTRACT: The chromosomal segment 6q24-q25 comprises a contiguous gene microdeletion syndrome characterized by intrauterine growth retardation, growth delay, intellectual disability, cardiac anomalies, and a dysmorphic facial phenotype. We describe here a 10-year follow-up with detailed clinical, neuropsychological, and cytomolecular data of two siblings, male and female, who presented with developmental delay, microcephaly, short stature, characteristic facial dysmorphisms, multiple organ anomalies, and intellectual disability. Microarray analysis showed an 8.5 Mb 6q24.2-q25.2 interstitial deletion. Fluorescence in situ hybridization analyses confirmed the deletions and identified an insertion of 6q into 8q13 in their father, resulting in a high recurrence risk. This is the first report in sibs with distinct neuropsychological involvement, one of them with stenosis of the descending branch of the aorta. © 2014 Wiley Periodicals, Inc.
    American journal of medical genetics. Part A. 06/2014;
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    ABSTRACT: The proximal regions of acrocentric chromosomes, particularly 15q11.2, are frequently involved in structural rearrangement. However, interstitial duplications involving one of the chromosome 15 homologues are less frequent, with few patients described with molecular techniques. These patients present distinctive clinical findings including developmental delay and intellectual disability, minor dysmorphic facial features, epilepsy, and autistic behavior. Here we describe an interstitial rearrangement of chromosome 15 composed of a triplication ∼6.9 Mb from 15q11.2 to 15q13.2 followed by a duplication of ∼2.4 Mb from 15q13.2 to 15q13.3, defined using different approaches as MLPA, qPCR, array and FISH. FISH revealed that the middle part of the triplicated segment was in inverted position. The parental origin of the rearrangement was assessed using methylation assay and SNP array that revealed the maternal origin of the additional material. The patient presents most of the clinical features associated to 15q11.2 triplication: minor dysmorphic facial features, generalized epilepsy, absence seizures, intellectual disability, and autistic behavior. In conclusion, the use of more accurate molecular tools enabled a detailed investigation, providing the identification of intrachromosome duplication/triplication and bringing new light to the study of genetic causes of autistic disorders. © 2012 Wiley Periodicals, Inc.
    American Journal of Medical Genetics Part B Neuropsychiatric Genetics 08/2012; 159B(7):823-8. · 3.23 Impact Factor
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    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.
    Molecular Cytogenetics 01/2012; 5:5. · 2.36 Impact Factor
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    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.
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    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. · 2.30 Impact Factor
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    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. · 0.55 Impact Factor
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    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. · 0.55 Impact Factor
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    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. · 2.30 Impact Factor
  • Neurobiology of Aging - NEUROBIOL AGING. 01/2004; 25.
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    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.