Cognitive and Behavioral Characterization of the Potocki-Lupski Syndrome (Duplication 17p11.2)
ABSTRACT To describe the cognitive and behavioral phenotypic features of the Potocki-Lupski syndrome (duplication 17p11.2), a recently recognized syndrome with multiple congenital anomalies and developmental delays.
Fifteen subjects were enrolled in an extensive multidisciplinary clinical protocol. Cognitive and behavior evaluations included a parent-report medical and psychological history form, intellectual assessment and assessments of adaptive behavior, executive functioning, and maladaptive behavior and emotions. Eight of the families completed an Autism Diagnostic Interview-Revised and Autism Diagnostic Observation Schedule-Generic.
The majority of patients (13 of 15) presented with intellectual disability. Moreover, the majority of patients also had moderate to severe behavioral difficulties, including atypicality, withdrawal, anxiety, and inattention. Many patients characterized also presented with autistic symptom pictures, some of whom (10 of 15) met diagnostic criteria for an autistic spectrum disorder, namely autistic disorder or pervasive developmental disorder not otherwise specified.
This work expands on the behavioral phenotype of duplication 17p11.2 (Potocki-Lupski syndrome). Further phenotypic analysis will aid in clinical diagnosis, counseling, and management of this newly characterized microduplication syndrome. The association between this syndrome and autistic spectrum disorder may contribute to further understanding the etiology of the pervasive developmental disorders.
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ABSTRACT: The pure Na0.5Bi4.5Ti4O15 and the V-doped Na0.5Bi4.5Ti4O15 (Na0.5Bi4.5-x/3Ti4-xVxO15 (NaBTiV-x, x=0.01, 0.03, and 0.05)) thin films were prepared by chemical solution deposition. For all samples, layered perovskite structure with a single phase and good crystalline structure was observed. And we utilized Raman spectroscopy to characterize the structural properties of the NaBTiV-x thin films. The surface was composed of fine grains without cracks in the SEM results. The NaBTiV-0.01 thin film exhibited the most outstanding electrical property among them. Remnant polarization (2Pr) was 61 μC/cm2 at room temperature and leakage current density of the NaBTiV-0.01 thin film measured at room temperature was 2.4×10−7 A/cm2 at an external electric field of 100 kV/cm. We consider that the enhanced properties may be related to reduce oxygen vacancies by doping vanadium.Current Applied Physics 10/2010; DOI:10.1016/j.cap.2010.10.014 · 2.03 Impact Factor
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ABSTRACT: Potocki-Lupski syndrome (PTLS, OMIM: 610883) is a microduplication syndrome characterized by infantile hypotonia, failure to thrive, cardiovascular malformations, developmental delay, intellectual disability, and behavior abnormalities, the latter of which can include autism spectrum disorder. The majority of individuals with PTLS harbor a de novo microduplication of chromosome 17p11.2 reciprocal to the common recurrent 3.6 Mb microdeletion in the Smith-Magenis syndrome critical region. Here, we report on the transmission of the PTLS duplication across two generations in two separate families. Individuals in these families presented initially with developmental delay, behavior problems, and intellectual disability. We provide a detailed review of the clinical and developmental phenotype of inherited PTLS in both families. This represents the second report (second and third families) of PTLS in a parent-child pair and exemplifies the under-diagnosis of this and likely other genetic conditions in adults with intellectual disability and/or psychiatric disorders. © 2013 Wiley Periodicals, Inc.American Journal of Medical Genetics Part A 02/2014; 164(2). DOI:10.1002/ajmg.a.36287 · 2.05 Impact Factor
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ABSTRACT: Intellectual disability is a complex, variable, and heterogeneous disorder, representing a disabling condition diagnosed worldwide, and the etiologies are multiple and highly heterogeneous. Microscopic chromosomal abnormalities and well-characterized genetic conditions are the most common causes of intellectual disability. Chromosomal Microarray Analysis analyses have made it possible to identify putatively pathogenic copy number variation that could explain the molecular etiology of intellectual disability. The aim of the current study was to identify possible submicroscopic genomic alterations using a high-density chromosomal microarray in a retrospective cohort of patients with otherwise undiagnosable intellectual disabilities referred by doctors from the public health system in Central Brazil. The CytoScan HD technology was used to detect changes in the genome copy number variation of patients who had intellectual disability and a normal karyotype. The analysis detected 18 CNVs in 60% of patients. Pathogenic CNVs represented about 22%, so it was possible to propose the etiology of intellectual disability for these patients. Likely pathogenic and unknown clinical significance CNVs represented 28% and 50%, respectively. Inherited and de novo CNVs were equally distributed. We report the nature of CNVs in patients from Central Brazil, representing a population not yet screened by microarray technologies.PLoS ONE 01/2014; 9(7):e103117. DOI:10.1371/journal.pone.0103117 · 3.53 Impact Factor