Interstitial 6q deletion in a patient presenting with drug-resistant epilepsy and Prader-Willi like phenotype: An electroclinical description with literature review.

PURPOSE: Interstitial 6q deletions are associated with rare genetic syndromes characterized by different signs, including developmental delay, dysmorphisms, and Prader-Willi (PWS)-like features. Drug-resistant epilepsy, a relatively rare finding in this condition, is often a challenge in terms of therapeutic approach. Our aim is to present a new case of interstitial 6q deletion and to conduct a systematic review of the literature with an emphasis on the neurophysiological and clinical traits of afflicted individuals. METHODS: We report a patient with an interstitial 6q deletion. Standard electroencephalograms (EEG), video-EEG with polygraphy and MRI features are discussed. We also conducted a literature review of previously described cases. RESULTS: We describe a relatively small interstitial 6q deletion (2 Mb circa), detected by CGH-Array, not encompassing the previously described 6q22 critical region for epilepsy occurrence. The patient, a 12-year-old girl, presented with multiple absence-like episodes and startle-induced epileptic spasms since the age of 11, with partial polytherapy control. Treatment with lamotrigine induced the resolution of startle-induced phenomena. From the literature review, we identified 28 patients with overlapping deletions, often larger than our patient's mutation. Seventeen patients presented with PWS-like features. Epilepsy was reported in 4 patients, and 8 patients presented abnormal EEG findings. In our patient, the deletion included genes MCHR2, SIM1, ASCC3, and GRIK2, but, interestingly, it did not encompass the 6q22 critical region for epilepsy occurrence. The involvement of GRIK2 in the deletion may play a role. CONCLUSION: Literature data are limited, and specific EEG or epileptological phenotypes cannot yet be identified. Epilepsy, although uncommon in the syndrome, deserves a specific diagnostic workup. We speculate on the existence of an additional locus in the 6q16.1-q21 region, different from the already hypothesized q22, promoting the development of epilepsy in affected patients.

Cromosomopatías en pacientes con cáncer sometidos a radioterapia con cobalto 60

Objetivo: Describir las aberraciones citogenéticas que pueden ser observadas por medio de la técnica Giemsa en fluorescencia y encontradas en pacientes con cáncer antes y después de ser sometidos a tratamiento con radioterapia. Métodos: Se analizó un mínimo de 200 metafases en primera división mitótica antes y después del tratamiento de radioterapia en nueve pacientes que asistieron a la sección de radioterapia del Hospital San Juan de Dios Costa Rica. En cada caso se contabilizó cada tipo de cromosomopatía por medio de la prueba de Giemsa en fluorescencia y utilizando bromodeoxiuridina y naranja de acridina. Resultados: Las cromosomopatías producidas por radioterapia se observaron tanto antes como después del tratamiento sin embargo destacó el incremento en la frecuencia de los cromosomas dicéntricos y anillos céntricos una vez finalizada la terapia. La frecuencia de fracturas cromatídicas de asociaciones satelíticas y de alteraciones morfológicas no se ve afectada por la radioterapia. Uno de los participantes presentó un recuento mitótico bajo. Conclusión: La radioterapia aumenta significativamente la frecuencia de los cromosomas dicéntricos y dicéntricos más anillos en la muestra en estudio. Este trabajo es relevante por ser el primer estudio en Costa Rica en el que se analizan los cromosomas dicéntricos como biomarcadores de exposición a radiaciones ionizantes mediante la prueba de Giemsa en fluorescencia y utilizando bromodeoxiuridina y naranja de acridina.

Aim: The objective of this study was to describe the before and after cytogenetic aberrations found in current patients of radiotherapy. This can be observed through the technique called "Giemsa in fluorescence" Methods: A minimum of 200 metaphases were analyzed in the first mitotic division in 9 patients. The patients where observed before and after radiotherapy treatment at the San Juan de Dios Hospital in Costa Rica. In each case any type of chromosomopathy was counted using the "Giemsa in fluorescence" test as well as Bromodeoxyuridine and acridine orange. Results: The chromosomopathies are observed before and after treatment with radiotherapy. The treatment seems to change the frecuency increasing the dicentric chromosomes and centric rings after the treatment. The frequency of chromatid fractures satellite associations and morphological alterations were not affected by radiotherapy. Conclusion: The chromosomopathies produced by radiotherapy were observed both before and after treatment with variations in their frequency. After radiotherapy dicentric chromosomes and dicentric chromosomes plus rings frequencies increased significantly. A low mitotic count was present this could have been the result of radiation on the bone marrow or by the cell repair and apoptosis system. The standardized " Fluorescence Plus Giemsa" test using Bromodesoxyuridine and acridine orange was used for the fiesta time in Costa Reica. This allowed for the measurement of radiation exposure used in the treatment or detection of diseases and cancer in pacients.

Reporte de malformaciones fetales diagnosticadas en comité ecográfico del Hospital Regional de Talca, entre junio 2020 y junio 2021 / Report of fetal malformations diagnosed in the ultrasound committee of the regional hospital of Talca, between june 2020 and june 2021

Introduction: Obstetric ultrasound is part of the screening to select the population at high risk of having a congenital malformation. Considering that fetal defects occur in approximately 2-4 out of every 100 live newborns, and are the cause of 35-40% of perinatal mortality in Chile, it is therefore justified to perform the second trimester ultrasound, which presents a high index prenatal screening (56%), with few false positives. Methods: A retrospective, cross-sectional and descriptive study was carried out, by reviewing 6,385 ultrasound scans, which were performed during one year (June 2020-June 2021), at the Regional Hospital of Talca, where 126 fetuses with suspected malformation were detected. Results: Of the total number of patients evaluated, a congenital malformation rate of 1.9% was detected, with cardiac malformations the most frequent, and diabetes mellitus the main risk factor. Conclusions: Antenatal ultrasound study is essential in the first and second trimesters of pregnancy, followed by a referral to an ultrasound committee, emphasizing early and interdisciplinary management. The frequencies found are similar to those reported in the international bibliography

Tremor and Parkinsonism in Chromosomopathies - A Systematic Review.

The landscape of genetic forms of Parkinson's diseases (PD) has grown exponentially in recent years. Today, around 10% of PD cases are estimated to be of genetic etiology. However, the link between parkinsonism or tremor and chromosome disorders, both numerical and structural, has been neglected. We reviewed the occurrence and characteristics of parkinsonism and tremor syndromes in patients with chromosomic disorders. We searched PubMed for articles published until December 2018, using the non-MESH terms "Chromosomopathy," "karyotype," "chromosome," "aneuploidy," "deletion," "inversion," "insertion," "duplication," and "Parkinson," "Parkinsonism," "Tremor," and "Parkinsonian disorder." We restricted the search to human studies and selected articles for further analysis after abstract review. Tremor syndromes in which patients had another possible clinical reason for syndromes were excluded, as well as tremor syndromes associated with point mutations, imprinting syndromes, and patients presenting with other hyperkinetic disorders. Fifty-four articles were reviewed. Aneuploidies of sex chromosomes were the most common chromosomopathy. These patients more commonly exhibited postural and kinetic tremor, often meeting the description of essential tremor. In structural chromosomopathies, the most frequent association was PD and 22q11.2 deletion syndrome, but we found case reports and case series of several additional deletion and duplication syndromes. © 2021 International Parkinson and Movement Disorder Society.

Frecuencia de aberraciones cromosómicas en pacientes del instituto de genética-UMSA período 2011 – 2015 / Frequency of chromosomopathies at the institute of genetics-UMSA period 2011 -2015

Las anomalías cromosómicas más frecuentes son las aneuploidías, donde resaltan las trisomías autosomas 21, 18, y 13. Son un motivo frecuente de abortos espontáneos, discapacidad intelectual, recién nacidos multimalformados, infertilidad, genitales ambiguos, y juegan un importante rol en la patogenia de enfermedades malignas OBJETIVO: Determinar la frecuencia de pacientes diagnosticados con aberraciones cromosómicas en el Instituto de Genética de la Universidad Mayor de San Andrés entre los años 2011 y 2015. METODOLOGÍA: Estudio de tipo descriptivo, serie de casos. Lugar, Instituto de Genética; La Paz, Bolivia. Período 2011 ­ 2015. Población, pacientes con cariotipo realizado en el Instituto de Genética. RESULTADOS: Se realizaron un total de 1070 estudios citogenéticos, siendo euploides un 69% de los pacientes. Dentro de los cariotipos aneuploides (31%) encontramos 88% de aberraciones cromosómicas constitutivas, y 12% de adquiridas. Las cromosomopatías más frecuentes fueron la trisomía 21, monosomía del X y translocaciones. CONCLUSIONES: Las Aberraciones cromosómicas ocupan un lugar importante en la patología genética humana, representando el 0,4% de los recién nacidos vivos (1). Realizar éste trabajo de investigación nos muestra su existencia en nuestra población, y que no son sólo la letra chica de los libros o casos extraños de película. Es muy necesario tener conocimiento sobre los motivos de solicitud de cariotipo para poder realizar un diagnóstico oportuno, y poder mejorar la calidad de vida del paciente y su familia.

OBJECTIVE: To determine the frequency of patients diagnosed with chromosomal aberrations at the Genetics Institute of the Universidad Mayor de San Andrés between 2011 and 2015. METHODS: Observational, descriptive cross-sectional study. Place, Institute of Genetics; La Paz, Bolivia. Period 2011 - 2015. Population, patients with karyotype performed at the Institute of Genetics. RESULTS: A total of 1070 cytogenetic studies were performed, with 69% of patients being euploid. Within the aneuploid karyotypes (31%) we found 88% constitutive chromosomal aberrations, and 12% acquired. The most frequent chromosomopathies were trisomy 21, X monosomy and translocations. CONCLUSIONS: Chromosomal Aberrations occupy an important place in human genetic pathology, representing 0.4% of the newborns. Performing this research shows us the existence of these pathologies in our population, and that are not only the small print of books or strange cases of film. It is very necessary to have knowledge about chromosomal aberrations in order to make a timely diagnosis and to improve the quality of life of the patient and his family