Introduction. Consanguinity is the union between people who share a common ancestor, and whose offspring have a higher risk of autosomal recessive diseases, manifesting in some patients as neurodevelopmental disorders. Objectives. To describe non-declared parental consanguinity of patients under 18 years of age with neurodevelopmental disorders, discovered by chromosomal microarray analysis. Methods. Chromosomal microarray analysis was performed on 967 patients with neurodevelopmental disorders between the years 2016-2021 and were selected to patients with regions of homozygosity (ROH) with a value greater than 0.5%. Results. 288 patients were evaluated, 58.3% of the patients were male and 29,8% presented an ROH greater than or equal to 0.5%. We found 25.9% and 0.83% of the patients had their parents of a fifth and first degree of consanguinity not previously declared, respectively. The ...

Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms physiopathological, and hence to recognize those target points susceptible to modifications, through therapeutical strategies different with palliative proposals, increase life expectancy, or improve qualities of life. These therapies are diverse, using drugs for polygenic diseases, nutritional therapy, special formulas, enzyme replacement therapies, hematopoietic stem cell transplant, substrate reduction, oligonucleotides, and gene therapy. These genetic diseases are heterogeneous clinically with a very low frequency; nevertheless, open to the possibility of research in new strategies for more genetic disease, that today, furthermore, are orphans. &nb...

Today, the number of genetic diseases is around 10000 conditions, affecting to 6%-8% of all populations. This review shows us how the discovery of genetic variants in our genome, this facilitated to know with precision about the mechanisms physiopathological, and hence to recognize those target points susceptible to modifications, through therapeutical strategies different with palliative proposals, increase life expectancy, or improve qualities of life. These therapies are diverse, using drugs for polygenic diseases, nutritional therapy, special formulas, enzyme replacement therapies, hematopoietic stem cell transplant, substrate reduction, oligonucleotides, and gene therapy. These genetic diseases are heterogeneous clinically with a very low frequency; nevertheless, open to the possibility of research in new strategies for more genetic disease, that today, furthermore, are orphans. &nb...

Existen más de 10 000 enfermedades genéticas descritas en el mundo y afectan alrededor del 7% de la población mundial, causando alta morbimortalidad y costos para los sistemas de salud pública. Representan un reto diagnóstico por la variabilidad clínica y la necesidad de pruebas diagnósticas moleculares. En el Perú, son escasas las investigaciones respecto a estas condiciones y, aunque se ha promulgado la Ley de Enfermedades Huérfanas o Raras (Ley Nº 29698), no se han implementado estrategias sanitarias nacionales para el diagnóstico, manejo y prevención. La presente publicación tiene como objetivo describir los factores de riesgo más frecuentes, los cuales están relacionados a enfermedades o síndromes de etiología genética.

Existen más de 10 000 enfermedades genéticas descritas en el mundo y afectan alrededor del 7% de la población mundial, causando alta morbimortalidad y costos para los sistemas de salud pública. Representan un reto diagnóstico por la variabilidad clínica y la necesidad de pruebas diagnósticas moleculares. En el Perú, son escasas las investigaciones respecto a estas condiciones y, aunque se ha promulgado la Ley de Enfermedades Huérfanas o Raras (Ley Nº 29698), no se han implementado estrategias sanitarias nacionales para el diagnóstico, manejo y prevención. La presente publicación tiene como objetivo describir los factores de riesgo más frecuentes, los cuales están relacionados a enfermedades o síndromes de etiología genética.

Neonatal screening for innate metabolism disorders was instituted more than 50 years ago. In Latin America, countries like Uruguay, Costa Rica, Chile, Brazil, and Colombia have implemented this public health measurement in a sustained fashion. Technology for detecting these conditions has been steadily progressing, achieving a good cost/effectiveness ratio, so access for such test is practically universal. Intracellular cobalamin metabolism disorders constitute a heterogeneous group that is subdivided in three biochemical phenotypes. We report the first patient in Peru with a late diagnosis of a homozygous c.394 C>T variant in the MMACHC gene, which belongs to the cbIC complementation group, which leads to methyl-malonic aciduria and homocystinuria, characterized by low height, retardation of psychomotor development, seizures, megaloblastic anemia, and variable thrombocytopenia and ne...

Objective: to establish the ratios of the copy number variations and regions of homozygosity through chromosomal microarray analysis (CMA) in children with neurodevelopmental disorders: development delay (DD), intellectual disability (ID), and/or autistic spectrum disorder (ASD), malformative syndrome (MS) and idiopathic short stature (ISS). Materials and methods: we evaluated 367 Peruvian children diagnosed clinically with ID, DD, ASD, ISS and MS to whom performed chromosomal microarray analysis in peripheral blood (750K CGH + SNP), between the years 2016-2018. Results: patients' age fluctuated between 4.8 months and 18 years old, with an average of 5.6 years old. The most frequent diagnoses were development delay (48%) and intellectual disability (30%). Abnormal results (pathogenic variants, likely pathogenic variants, uniparental disomies and loss of heterozygosity> 2.5%) were repo...

Existen más de 10 000 enfermedades genéticas descritas en el mundo y afectan alrededor del 7% de la población mundial, causando alta morbimortalidad y costos para los sistemas de salud pública. Representan un reto diagnóstico por la variabilidad clínica y la necesidad de pruebas diagnósticas moleculares. En el Perú, son escasas las investigaciones respecto a estas condiciones y, aunque se ha promulgado la Ley de Enfermedades Huérfanas o Raras (Ley Nº 29698), no se han implementado estrategias sanitarias nacionales para el diagnóstico, manejo y prevención. La presente publicación tiene como objetivo describir los factores de riesgo más frecuentes, los cuales están relacionados a enfermedades o síndromes de etiología genética.

Neonatal screening for innate metabolism disorders was instituted more than 50 years ago. In Latin America, countries like Uruguay, Costa Rica, Chile, Brazil, and Colombia have implemented this public health measurement in a sustained fashion. Technology for detecting these conditions has been steadily progressing, achieving a good cost/effectiveness ratio, so access for such test is practically universal. Intracellular cobalamin metabolism disorders constitute a heterogeneous group that is subdivided in three biochemical phenotypes. We report the first patient in Peru with a late diagnosis of a homozygous c.394 C>T variant in the MMACHC gene, which belongs to the cbIC complementation group, which leads to methyl-malonic aciduria and homocystinuria, characterized by low height, retardation of psychomotor development, seizures, megaloblastic anemia, and variable thrombocytopenia and ne...

Objective: to establish the ratios of the copy number variations and regions of homozygosity through chromosomal microarray analysis (CMA) in children with neurodevelopmental disorders: development delay (DD), intellectual disability (ID), and/or autistic spectrum disorder (ASD), malformative syndrome (MS) and idiopathic short stature (ISS). Materials and methods: we evaluated 367 Peruvian children diagnosed clinically with ID, DD, ASD, ISS and MS to whom performed chromosomal microarray analysis in peripheral blood (750K CGH + SNP), between the years 2016-2018. Results: patients' age fluctuated between 4.8 months and 18 years old, with an average of 5.6 years old. The most frequent diagnoses were development delay (48%) and intellectual disability (30%). Abnormal results (pathogenic variants, likely pathogenic variants, uniparental disomies and loss of heterozygosity> 2.5%) were repo...

Define las variantes patogénicas o probablemente patogénicas intragénicas en pacientes con discapacidad intelectual en el Instituto Nacional de Salud del Niño entre los años 2021-2023. El estudio es transversal descriptivo, con muestreo por conveniencia. Se realiza la secuenciación de exoma completo a 124 niños con diagnóstico de discapacidad intelectual. Adicionalmente se realiza el análisis cromosómico por micromatrices de 6,55 M a diez pacientes que tuvieron un resultado negativo en la secuenciación. Se determina las frecuencias relativas y absolutas, así como las medidas de tendencia central y dispersión, según su naturaleza. Además, se utiliza regresión lineal múltiple y de Poisson para determinar la asociación entre algunas características clínicas y la probabilidad de aparición en los pacientes con resultados positivos. En cuanto a los resultados, se evidencia...

Human intelligence is a polygenic trait (~1000 genes), with an approximate influence of 0.1% per every individual gen. It is an indispensable attribute for personal, familial, social, and economic development; furthermore, it is directly proportional to health maintenance and a longer life expectancy. Consequently, intellectual disability affects all these areas, and constitutes a public health problem in several Latin American countries where it shows a >10%. In ~85% of the patients, the etiology of intellectual disability, be that isolated or syndromic; it is mostly diagnosed through the new technological search studies of the genome, such as new generation sequencing and/or chromosomal microarray analysis. The clinical and etiological diagnosis of intellectual disability, when duly confirmed, allows the choice of specific treatment modalities, the precise determination of prognosis...

Pulmonary arterial hypertension (PAH) is a heterogeneous disease where genes play an important role. Hereditary PAH (PAH) is defined as a genetic condition of autosomal dominant manner, incomplete penetrance, variable expressivity, and which cases of familial PAH are defined by the presence of two or more family members with PAH with or without an identified germline variant and cases of idiopathic PAH corresponding to isolated cases in the family with an identified germline variant. To establish the diagnosis of hAPH, it is necessary to confirm the diagnosis in at least two relatives (HAPf) or identify the germline variant in an isolated case in the family (HAPi).

Pulmonary arterial hypertension (PAH) is a heterogeneous disease where genes play an important role. Hereditary PAH (PAH) is defined as a genetic condition of autosomal dominant manner, incomplete penetrance, variable expressivity, and which cases of familial PAH are defined by the presence of two or more family members with PAH with or without an identified germline variant and cases of idiopathic PAH corresponding to isolated cases in the family with an identified germline variant. To establish the diagnosis of hAPH, it is necessary to confirm the diagnosis in at least two relatives (HAPf) or identify the germline variant in an isolated case in the family (HAPi).

Introduction: A common onset of acute abdomen that requires a quick operation is appendicitis, since it is more frequent in males than in females, affecting pediatric patients and adolescents from 10 to 20 years of age. There is obstruction of the appendicular lumen, due to fecaliths, hyperplasia of the lymphoid follicle, parasites and primary type carcinomas. Children do not express what they feel and this increases the risk of complications. Objectives: To determine the risk factors associated with complicated acute appendicitis in pediatric patients at the Pediatric Emergency Hospital for the period 2019-2021 Methodology: The study design is analytical, observational, retrospective of cases and controls through data collection from clinical histories and operative reports. Results: A relationship was seen with the following variables: leukocytosis (adjusted OR=2.79 CI=0.95; 1.30 – 6...

The fibular aplasia, tibial campomelia, oligosyndactyly (FATCO) syndrome is characterized by the variable leg anomalies. The genetic etiology of this disease has not been determined to date; however, it has been suggested that the genetic inheritance is autosomal dominant. The frequency of presentation globally is infrequent and this is the main reason for the low number of patient reports. There’s a report of the unusually high presentation of 14 Peruvian patients diagnosed at a single center with the clinical features of FATCO syndrome over a 13-year period. We compare and discuss the clinical and radiological data of our patients with those of the 14 cases described worldwide. In addition, the demographic characteristics, family history, sex, age, and concomitant anomalies are analyzed.

En Perú se ha estado trabajando en genética y genómica a pesar de la ausencia de inversión nacional. Proveedores multidisciplinarios en el cuidado de la salud han contribuido en el área de la genética en Perú. Se destaca varios ejemplos de logros en áreas clínicas y de investigación. El número de profesionales bien entrenados está aumentando, contribuyendo con colaboraciones nacionales e internacionales, investigación y experiencia clínica, que se incrementa en calidad y extensión. En estos tiempos donde mucha tecnología externa y estandarizada está emergiendo, la colaboración es muy importante para la investigación y se traduce en la implementación de medicina precisa para el sistema de salud pública.

Peru is a pluricultural and ethnically diverse country located in middle west of South America. It is the fourth largest country (1,285,216 km2) in area in South America, bordered in the north by Ecuador and Colombia, in the south by Chile, south east by Bolivia, by Brazil in the east and by the Pacific Ocean in the west. Peru has one of the most diverse climates, geographical and ecological in the world, from tropical or subtropical dessert to glacial in highland mountains to Amazon jungle. Peru is divided into 24 geopolitical regions with a central government. According to last national census in 2017, Peruvian populations accounts for 31,237,385 inhabitants (Instituto Nacional de Estadistica e Informatica [INEI], 2017). Most of Peru's population lives in the Coastal area, with almost one third of the nation's population living in Lima, the largest city with approximately 11 million pe...

Peru is a pluricultural and ethnically diverse country located in middle west of South America. It is the fourth largest country (1,285,216 km2) in area in South America, bordered in the north by Ecuador and Colombia, in the south by Chile, south east by Bolivia, by Brazil in the east and by the Pacific Ocean in the west. Peru has one of the most diverse climates, geographical and ecological in the world, from tropical or subtropical dessert to glacial in highland mountains to Amazon jungle. Peru is divided into 24 geopolitical regions with a central government. According to last national census in 2017, Peruvian populations accounts for 31,237,385 inhabitants (Instituto Nacional de Estadistica e Informatica [INEI], 2017). Most of Peru's population lives in the Coastal area, with almost one third of the nation's population living in Lima, the largest city with approximately 11 million pe...

Peruvians currently preserve in their DNA the history of 2.5 million years of human evolution and 150,000 years of migration from Africa to Peru or the Americas. The development of Genetics and Genomics in the clinical and academic field is shown in this review.