ABSTRACT
Introducción: Los isocromosomas constituyen una aberración cromosómica producto de un rearreglo poco frecuente en el cual, debido a una división errónea, surge un cromosoma con dos copias de un mismo brazo y ausencia del otro. Esto se tradujo para los sujetos en estudio en una trisomía parcial para un brazo y una monosomía parcial para el otro brazo. Objetivo: Analizar lo inusual que resulta un hallazgo de esta naturaleza en un bebé de dos años y la posible existencia de un mosaicismo no detectado. Presentación del caso: Se realizó un estudio cromosómico a un paciente por presentar un anillo aórtico y un crecimiento retardado, y se determina la presencia de un isocromosoma de brazo largo del cromosoma 18. El cariotipo de ambos padres resultó ser normal. Conclusiones: La presencia de un isocromosoma de brazo largo del cromosoma 18 se manifiesta con signos intermedios entre una trisomía 18 un síndrome por deleción de brazo corto del cromosoma 18. El estudio citogenético permitió brindar una respuesta precisa del origen de la anomalía cromosómica (AU)
Subject(s)
Humans , Male , Female , Chromosomes, Human, Pair 18/genetics , Vascular Ring/genetics , Birth Weight/genetics , Cytogenetic Analysis/ethicsSubject(s)
DNA Mutational Analysis , Genetic Testing , Reagent Kits, Diagnostic , Commerce , Cytogenetic Analysis/ethics , Cytogenetic Analysis/methods , DNA Mutational Analysis/ethics , DNA Mutational Analysis/methods , DNA Mutational Analysis/standards , Genetic Testing/ethics , Genetic Testing/methods , Genetic Testing/standards , History, 21st Century , Humans , Reagent Kits, Diagnostic/economics , Reagent Kits, Diagnostic/ethicsABSTRACT
En las últimas décadas la bioprospección se ha convertido en un importante campo de investigación que busca alternativas de desarrollo, la inserción en mercados (ambientales) globales y la consecuente obtención de beneficios bajo los principios del desarrollo sostenible. Sin embargo, es mucho lo que aún hace falta por decir sobre los impactos sociales y ambientales que esta actividad produce así como sobre sus principales limitaciones. Dentro de este contexto, se desarrolla el 28 de marzo de 2012, en la Universidad Nacional de Colombia, un Foro-Conversatorio que bajo el título
During recent decades, bioprospecting has become an important field of research, which looks for development alternatives, entry into global (environmental) markets, and the subsequent objection of benefits under sustainable development principles. However, there is still so much to discuss regarding the social and environmental impacts produced by this activity, as well as its main limitations. To this end, the Forum/round-table discussion, entitled
Subject(s)
Humans , Genetic Testing/ethics , Genome, Human , Bioethical Issues , Genetic Research/ethics , Genetic Privacy/ethics , Cytogenetic Analysis/ethicsABSTRACT
The paradigm of personalised medicine has many different facets, further to the application of pharmacogenetics. We examine here (direct-to-consumer) personal genome analysis and whole body scans and summarise findings from the Nuffield Council's on Bioethics recent report "Medical profiling and online medicine: the ethics of 'personalised healthcare' in a consumer age". We describe the current situation in Germany with regard to access to such services, and contextualise the Nuffield Council's report with summaries of position statements by German professional bodies. We conclude with three points that merit examination further to the analyses of the Nuffield Council's report and the German professional bodies. These concern the role of indirect evidence in considering restrictive policies, the question of whether regulations should require commercial providers to contribute to the generation of better evidence, and the option of using data from evaluations in combination with indirect evidence in justifying restrictive policies.
Subject(s)
Commerce/ethics , Cytogenetic Analysis/ethics , Ethics, Medical , Genetic Testing/ethics , Magnetic Resonance Imaging/ethics , Power, Psychological , Precision Medicine/ethics , Preventive Health Services/ethics , Whole Body Imaging/ethics , Adult , Direct Service Costs/ethics , Electronic Health Records , Female , Germany , Humans , Internet , Patient Participation , Private Practice/ethicsABSTRACT
Two recent studies published in Science Translational Medicine (Lo et al., 2010; Bell et al., 2011) demonstrate the potential of applying the latest genome-sequencing technologies to preconception carrier testing and noninvasive prenatal genetic diagnosis. These studies shine new light on old ethical, legal, and social concerns associated with genetic technology and deserve careful discussion.
Subject(s)
Cytogenetic Analysis , Genetic Testing , Prenatal Diagnosis , Cytogenetic Analysis/ethics , Cytogenetic Analysis/methods , Female , Genetic Testing/ethics , Genetic Testing/methods , Genome, Human , Humans , Mass Screening/ethics , Mass Screening/methods , Pregnancy , Prenatal Diagnosis/ethics , Prenatal Diagnosis/methodsSubject(s)
Humans , Male , Female , History, 20th Century , Nobel Prize , Telomere-Binding Proteins , Telomere-Binding Proteins/history , Telomerase/history , Telomerase/pharmacology , Cytogenetics/education , Cytogenetics/history , Cytogenetics/methods , Ribosomes , Ribosomes/genetics , Cytogenetics/ethics , Cytogenetic Analysis/history , Telomerase/pharmacokinetics , Cytogenetics/organization & administration , Cytogenetics/trends , Cytogenetic Analysis/ethics , Eukaryotic Initiation Factors , Eukaryotic Initiation Factors/pharmacology , Eukaryotic Initiation Factors/pharmacokineticsABSTRACT
This review aims to provide a rational and ethical basis for prenatal testing for uniparental disomy (UPD) in cases with abnormal ultrasound findings or numeric and/or structural chromosomal aberrations in chorionic villous or amniotic fluid samples. The clinical phenotypes of the genomic imprinting-associated paternal UPD 6 (transient neonatal diabetes mellitus), maternal UPD 7 (Silver-Russell syndrome), paternal UPD 11p (Beckwith-Wiedemann syndrome), maternal UPD 14 (precocious puberty, short stature and highly variable developmental delay), paternal UPD 14 (polyhydramnios and a bell-shaped thorax), maternal UPD 15 (Prader-Willi syndrome), paternal UPD 15 (Angelman syndrome), maternal UPD 16 and UPD 20, as well as the diagnostic options, are summarized. In addition, the clinical impact of UPD testing and its relevance in various prenatal diagnostic situations are discussed. As a general rule, prenatal UPD testing, following genetic counseling, is justified if paternal UPD 14, maternal UPD 15 or paternal UPD 15 are suspected. In contrast, considering the mild phenotypes of paternal UPD 6 and maternal UPD 7, prenatal UPD testing is questionable. Because of the highly variable phenotype for paternal UPD 11p, maternal UPD 14 and maternal UPD 16, prenatal testing should be discussed critically on an individual basis. For all other chromosomes, prenatal UPD testing is purely academic and should therefore not be performed on a routine basis, particularly because a positive result might confuse the parents more than it actually helps them.
Subject(s)
Cytogenetic Analysis/methods , Genetic Counseling/ethics , Prenatal Diagnosis/methods , Uniparental Disomy/diagnosis , Cytogenetic Analysis/ethics , Female , Genetic Counseling/standards , Genomic Imprinting/genetics , Humans , Male , Phenotype , Pregnancy , Prenatal Diagnosis/ethics , Uniparental Disomy/geneticsSubject(s)
Bioethics , Cytogenetic Analysis/ethics , Preimplantation Diagnosis/ethics , Government Regulation , Humans , Politics , United StatesABSTRACT
La citogenética molecular es una poderosa herramienta en el diagnóstico e investigaciones actuales, donde la hibridación in situ con fluorescencia (FISH) es uno de sus puntales. De acuerdo al diagnóstico o investigación a realizar se selecciona el tipo de sonda a utilizar; así, tenemos que las sondas genes-específicas son útiles en la detecciónde enfermedades en las que se conoce la secuencia génica afectada; las sondas de secuencias repetitivas son utilizadas en la detección de aneuploidías y estudios de retraso mental. Otra variante como el CGH (Comparative Genomic Hybridisation), es una nueva tecnología donde se compara el ADN tumoral y ADN normal, marcados con fluorocromos diferentes, permitiendo detectar ganancias o pérdidas en el ADN del tumor y hacer predicciones de su evolución y posible tratamiento. Por otro lado, el SKY permite detectar translocaciones crípticas al colorear cada cromosoma con un color diferente y el Rx-FISH nos permite detectar aberraciones intracromosómicas, además de identificar anillos y cromosomas marcadores...(AU)
