BackgroundTrisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complete 9p duplication, three of them involving 9p centromere alterations.MethodsThe rearrangements in the patients were characterized by G-banding, SNP-array and fluorescent in situ hybridization (FISH) with different probes.ResultsTwo patients presented de novo dicentric chromosomes: der(9;15)t(9;15)(p11.2;p13) and der(9;21)t(9;21)(p13.1;p13.1). One patient presented two concomitant rearranged chromosomes: a der(12)t(9;12)(q21.13;p13.33) and an psu i(9)(p10) which showed FISH centromeric signal smaller than in the normal chromosome 9. Besides the duplication 9p24.3p13.1, array revealed a 7.3 Mb deletion in 9q13q21.13 in this patient. The break in the psu i(9)(p10) probably occurred in the centromere resulting in a smaller centromere and with part of the 9q translocated to the distal 12p with the deletion 9q occurring during this rearrangement. Two patients, brother and sister, present 9p duplication concomitant to 18p deletion due to an inherited der(18)t(9;18)(p11.2;p11.31)mat.ConclusionsThe patients with trisomy 9p present a well-recognizable phenotype due to facial appearance, although the genotype-phenotype correlation can be difficult due to concomitant partial monosomy of other chromosomes. The chromosome 9 is rich in segmental duplication, especially in pericentromeric region, with high degree of sequence identity to sequences in 15p, 18p and 21p, chromosomes involved in our rearrangements. Thus, we suggest that chromosome 9 is prone to illegitimate recombination, either intrachromosomal or interchromosomal, which predisposes it to rearrangements, frequently involving pericentromeric regions.
ObjectivesThe high frequency of learning difficulties, attention disorders or developmental delay in children in the early years of schooling has resulted in a greater demand for pediatric services. Such services generally include assessments covering various specialties, are lengthy and often inaccessible to families due to prohibitively high cost. This paper presents an economically efficient model of interdisciplinary diagnosis.MethodsA group of 109 Brazilian students from public schools aged between 5 and 14 years old, referred by teachers for a history of learning disabilities, behavioral changes or language problems, was evaluated at the NANI (Nucleo de Atendimento Neuropsicologico Infantil). Assessments were performed simultaneously during a single day's attendance and comprised clinical-genetic examination, behavioral assessment and neuropsychological screening, specially developed for the process. The multiaxial system of DSM-IV was adopted for diagnostic description.ResultsThe results revealed heterogeneity in diagnoses which included specific learning disorders (25.7%), mild intellectual disabilities (17.43%), as well as suspected dysmorphic features (11.93%). Logistic regression showed good sensitivity of neuropsychological screening in the detection of predictive factors for specific developmental disorders, while working memory (p=0.05) and language (p=0.02) problems were found to be higher risk.ConclusionsThe model adopted proved to be useful for defining the diagnosis of several conditions in infancy, and can be incorporated into specialized clinics such as psychiatric or developmental pediatric services.
BackgroundPartial 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.Case presentationWe 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.ConclusionCompared 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.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.
hi@scite.ai
10624 S. Eastern Ave., Ste. A-614
Henderson, NV 89052, USA
Copyright © 2024 scite LLC. All rights reserved.
Made with 💙 for researchers
Part of the Research Solutions Family.