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Introducción: El colectivo de profesores de la Facultad de Ciencias Médicas Manuel Fajardo trazó una estrategia de perfeccionamiento del proceso docente educativo para el curso 2022-2023. Se trabajó en las esencialidades de la asignatura Genética Médica, caracterizada por el desarrollo de métodos activos de enseñanza y un entorno virtual de aprendizaje, y el uso de un libro de texto de la autoría de uno de los profesores del colectivo de asignatura. Objetivo: Explorar la percepción estudiantil del proceso enseñanza aprendizaje de la Genética Médica en la Facultad de Medicina Manuel Fajardo durante el curso académico 2022-2023. Métodos: Se realizó un estudio observacional descriptivo transversal. Se aplicó un cuestionario, cuyo contenido previamente se validó a través del Coeficiente V de Aikem a 115 estudiantes del segundo año de la carrera de medicina, que ofrecieron su consentimiento informado. Se caracterizaron 13 variables. Resultados: Los mayores porcentajes de satisfacción se agruparon en el nivel de conocimientos impartidos (100 por ciento), la utilización de los medios audio visuales (94,7 por ciento), y la personalización de las consultas docentes (94,6 por ciento). Los mayores porcentajes de insatisfacción estudiantil estuvieron relacionados con la dinámica grupal en la integración del conocimiento (30,1 por ciento), los métodos de evaluación (27,0 por ciento) y utilización de casos clínicos para el aprendizaje (27,0 por ciento). Conclusiones: Existe una buena percepción estudiantil del proceso docente de la asignatura Genética Médica en la Facultad de Medicina Manuel Fajardo durante el curso académico 2022-2023 influido, entre otros factores, por la utilidad práctica del contenido recibido y por el desarrollo de las consultas docentes personalizadas(AU)

Introduction: The faculty of Facultad de Ciencias Médicas Manuel Fajardo outlined a strategy for improving the educational teaching process for the 2022-2023 academic year. Work was done on the essentials of the subject Medical Genetics, characterized by the development of active teaching methods and a virtual learning environment, as well as by the use of a textbook authored by one of the professors of the subject faculty. Objective: To explore the student perception about the teaching-learning process of Medical Genetics at Facultad de Ciencias Médicas Manuel Fajardo during the 2022-2023 academic year. Methods: A cross-sectional descriptive observational study was carried out. A questionnaire, whose content was previously validated through Aikem's V Coefficient, was applied to 115 second-year medical students, who offered their informed consent. Thirteen variables were characterized. Results: The highest percentages of satisfaction were grouped in the level of imparted knowledge (100 percent), the use of audiovisual media (94.7 percent), and the personalization of teaching consultations (94.6 percent). The highest percentages of student dissatisfaction were related to group dynamics in knowledge integration (30.1 percent), the evaluation methods (27.0 percent), and the use of clinical cases for learning (27.0 percent). Conclusions: There is good student perception about the teaching process of the subject Medical Genetics at Facultad de Medicina Manuel Fajardo during the 2022-2023 academic year due to the influence of, among other factors, the practical usefulness of the received content and the development of personalized teaching consultations(AU)

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INTRODUCTION The consequences of de novo balanced structural chromosome aberrations diagnosed antenatally are unpredictable, and, as a result, they introduce uncertainty into genetic counseling decisions. OBJECTIVE Describe de novo balanced structural aberrations present at antenatal diagnosis in samples from pregnant women in five Latin American countries and determine their effect on carrier individuals. METHODS This was a retrospective observational study based on analysis of 109,011 antenatal tests conducted from January 1981 to December 2016 in Cuba, Uruguay, Costa Rica, Mexico, and Colombia. Thirteen cytogenetic laboratories provided information that included the cases analyzed during the study period; number of de novo balanced structural aberrations diagnosed antenatally; number of diagnoses with de novo balanced structural aberrations that resulted in termination of pregnancy; detailed descriptions of the karyotypes of de novo balanced structural aberration carriers, and descriptions of the form of diagnosis, including types of samples used (amniotic fluid, chorionic villus or fetal blood). Each laboratory also provided pathology reports and genetic counseling at time of diagnosis. Postnatal followup for pregnancies carried to term continued for at least two years. RESULTS Of the 109,011 antenatal tests studied, 72 (0.07%) showed de novo balanced structural aberrations. These events primarily involved chromosomes 1, 2, 7, 14, 18, and 20. Of the 79 breakpoints identified, the most common were 5p15.3, 7q11.2, 7q22, and 14q24. We identified three breakpoints corresponding to 3.8% (3q13.1, 3q13.2, and 9p12) that were not reported in other studies of de novo balanced structural aberrations diagnosed antenatally in patients from other geographic regions or in studies of chromosomal fragile sites. Two of these breakpoints (3q13.1 and 3q13.2) were associated with high risk of phenotypic abnormalities. Information on antenatal or postnatal followup was available for 62 (86%) of de novo balanced structural aberration carriers; of the 44 carriers with postnatal followup, 10 had phenotypic abnormalities. CONCLUSIONS Three new de novo breakpoints were identified, presumably related to genetic admixture characteristics in Latin America. Since some diseases associated with de novo balanced structural aberrations detected antenatally have a late onset, followup for at least two years is recommended for carriers of these aberrations. The information in this study is useful in genetic counseling for pregnant women in Latin America.

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La encondromatosis múltiple familiar fue descrita por Virchow en 1910, se presenta con un patrón de herencia autosómico dominante. Las encondromatosis comprenden un grupo heterogéneo de síndromes congénitos caracterizados por la presencia de encondromas múltiples, asociados a malformaciones músculos esqueléticos secundarios al acortamiento de las extremidades. Se presentó una familia con cuatro afectados, a los que se les realizó diagnóstico donde se aplicó el método clínico a través del examen físico e imagenológico. Es importante la realización de un diagnóstico precoz de esta entidad por la posibilidad de realizar una prevención secundaria en los pacientes, así como para brindar un adecuado asesoramiento genético a la familia.

Multiple family enchondromatosis was described by Virchow in 1910, is presented with a pattern of autosomal dominant inheritance. The enchondromatosis comprise a heterogeneous group of congenital syndromes characterized by the presence of multiple enchondromas associated with musculoskeletal deformities secondary to shortening of the limbs. A family with four members affected, whose diagnosis was made by the clinical method through physical examination and imaging was presented. It is important to made an early diagnosis of this disease because of the possibility of a secondary prevention in patients as well as to provide appropriate genetic counseling to the family.

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La encondromatosis múltiple familiar fue descrita por Virchow en 1910, se presenta con un patrón de herencia autosómico dominante. Las encondromatosis comprenden un grupo heterogéneo de síndromes congénitos caracterizados por la presencia de encondromas múltiples, asociados a malformaciones músculos esqueléticos secundarios al acortamiento de las extremidades. Se presentó una familia con cuatro afectados, a los que se les realizó diagnóstico donde se aplicó el método clínico a través del examen físico e imagenológico. Es importante la realización de un diagnóstico precoz de esta entidad por la posibilidad de realizar una prevención secundaria en los pacientes, así como para brindar un adecuado asesoramiento genético a la familia(AU)

Multiple family enchondromatosis was described by Virchow in 1910, is presented with a pattern of autosomal dominant inheritance. The enchondromatosis comprise a heterogeneous group of congenital syndromes characterized by the presence of multiple enchondromas associated with musculoskeletal deformities secondary to shortening of the limbs. A family with four members affected, whose diagnosis was made by the clinical method through physical examination and imaging was presented. It is important to made an early diagnosis of this disease because of the possibility of a secondary prevention in patients as well as to provide appropriate genetic counseling to the family(AU)

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