luis alberto mendez-rosado

• PhD
• Researcher at Centro Nacional de Genética Médica

Generally, in reciprocal translocations there are no gains or losses of genetic material. From the clinical point of view, its primary importance lies in the fact that it can generate errors due to incorrect chromosome segregation during meiosis in carriers. On the other hand, other mutations are less frequent in the genome, specifically in the DNA...

Introduction: Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual disability syndrome caused by tissue-restricted, mosaic tetrasomy 12p. The most common signs are facial dysmorphism, rhizomelic shortening of the extremities, pigmentary mosaic in skin; craniofacial manifestations include a ''coarse'' face with a flat...

RESUMEN Introducción: los polimorfismos cromosómicos o heteromorfismos, son variaciones cromosómicas, relacionadas con la heterocromatina, y que se encuentran en la población general en un bajo porcentaje, sin embargo, se ha observado que este porcentaje aumenta en la población que padece de trastornos reproductivos. Objetivo: Identificar los polim...

Background: Genetic and chromosomal causes in particular are responsible for a large percentage of pregnancy losses during the first trimester of pregnancy. Among chromosomal abnormalities, balanced or unbalanced, structural aberrations are the least common in reproductive disorders. The aim of the study: To describe several types of unusual struct...

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, affecting approximately 1 in 500 people. It is the most common genetic cardiomyopathy inherited as a Mendelian trait in approximately 50% of patients, mainly due to pathogenic variants in genes encoding sarcomeric proteins. Mutations in the sarcomeric protein filamin C (...

Es un libro de 20 capítulos que abarca diferentes tópicos sobre esta especialidad de la genética humana. Esta dirigido principalmente a la docencia de postgrado.

Introducción: La deleción en la región 22q11.2 es considerada la microdeleción más frecuente en humanos, caracterizándose por una gran diversidad de rasgos clínicos, que hace difícil su diagnóstico. Objetivo: Describir las características fenotípicas de los pacientes con diagnóstico molecular de deleción 22q11.2 y sugerir un algoritmo de trabajo pa...

Silver-Rusell syndrome is a rare genetic disease. There is evidence that the genetic causes of the disorder are heterogeneous, with predominant alterations in the imprinted regions of chromosomes 11 and 7, in addition to other genomic alterations, such as chromosomal structural aberrations, single nucleotide polymorphisms, copy number variations, a...

Morphological variations of chromosome 9 constitute the second most common heteromorphism in humans, and can be observed in 6-8% of the general population. Carrier individuals have a history of reproductive disorders, infertility, and spontaneous abortions. The objective of this research was to present a case of a rare heteromorphism in chromosome...

Promoción de Salud. Trabajo para optar por el título de Máster en Genética Médica. Caracterización de polimorfismos cromosómicos en individuos con fallas reproductivas durante el periodo 2005-2015. Autora: Lic.Yomisleydis Bravo Álvarez Tutor: Dr.C. Luis Alberto Méndez Rosado Ciudad de La Habana 2023 Agradecimientos Agradecer a todos los profesores...

Introducción: Las alteraciones cromosómicas son una causa importante de enfermedad y mortalidad fetal. Objetivo: Obtener un modelo predictivo para detectar aberraciones cromosómicas fetales en gestantes de riesgo. Métodos: Se realizó un estudio observacional, analítico, transversal y retrospectivo, a un nivel de investigación relacional, en ges...

Introducción: Los cromosomas en anillo son un tipo raro de anomalía estructural con tamaño y contenido genético variable y puede tener su origen en cualquier cromosoma. Según la literatura internacional, las características clínicas asociadas con el cromosoma 22 en anillo estarán en dependencia de la extensión de la deleción terminal 22q Objetivo:...

RESUMEN Introducción: Las alteraciones cromosómicas son una causa importante de enfermedad y mortalidad fetal. Objetivo: Identificar los factores de riesgo de alteraciones cromosómicas asociados al resultado citogenético fetal en gestantes de la provincia Mayabeque. Métodos: Se realizó un estudio observacional, analítico, transversal y retrospectiv...

Complex chromosomal rearrangements (CCRs) are aberrations involving three or more chromosomes or three or more breakpoints, are extremely rare and approximately more than half are associated with affected phenotypes. Diagnosis is usually made by applying methods such as molecular karyotyping (aCGH) and fluorescence in situ hybridization (FISH). For...

Los rearreglos cromosómicos complejos (RCC) constituyen aberraciones que involucran tres o más cromosomas o tres o más puntos de rupturas, son extremadamente raros y aproximadamente más de la mitad están asociados a fenotipos afectados. Generalmente el diagnóstico se realiza aplicando métodos como el cariotipo molecular (aCGH) e hibridación in situ...

Introducción: Las alteraciones cromosómicas son una causa importante de enfermedad y mortalidad fetal. Objetivo: Identificar los factores de riesgo de alteraciones cromosómicas asociados al resultado citogenético fetal en gestantes de la provincia Mayabeque. Métodos: Se realizó un estudio observacional, analítico, transversal y retrospectivo, epide...

Propósito de la revisión: En Cuba se dispone actualmente de una alternativa en aquellos casos donde la realización del cariotipo no es posible o resulta no concluyente, en tales casos se descartan las principales aneuploidías empleando la hibridación fluorescente in situ. Su empleo resulta muy costoso e implica una carga intensa de trabajo. Entre l...

Los trastornos reproductivos son de causa heterogénea. Las aberraciones cromosómicas balanceadas y los polimorfismos cromosómicos en individuos portadores están descritas entre las causas genéticas más reportadas. El objetivo de este trabajo fue describir el hallazgo inusual de una ganancia en la región heterocromática del cromosoma 9, unida a dos...

Introducción: el Síndrome Prader-Willi, causado por la ausencia de expresión de la región 15q11-13 paterna, es el primer desorden por defectos de impronta descrito en humanos. Con una incidencia de 1 en 10000-15000, su fenotipo clínico caracterizado por hipotonía, obesidad e hipogonadismo se sobrelapa a un grupo de síndromes genéticamente heterogén...

Background DiGeorge syndrome (DGS), caused by a deletion del(22)(q11.2q11.2), is the most frequently observed microdeletion syndrome. There is a vast clinical heterogeneity in DGS, and several studies suggested also heterogeneity of clinical signs and phenotypic appearance to be related to ethnic differences. Here, clinical characteristics of 72 pa...

In 2019, the Prenatal Chromosomal Diagnosis of a patient results in 46, XX, t (5; 15) (q14.1; qter), when studying both parents it is found that they inherit it from the father. Later, the oldest son of the couple is studied and it is also found to be a carrier. Conclusions: Pregnancy monitoring and educational work with all family members is im...

S ABSTRACT Introduction: 25 – 50 % of all supernumerary marker chromosomes come from chromosome 15, most are identified as an inversion duplication of 15 (inv dup 15) Objectives: To describe three cases of patients with an inv dup chromosomal marker (15), detected in a different way, who are referred to the cytogenetics laboratory of the Nationa...

Introduction: Advanced maternal age has been acknowledged as a risk factor for fetal aneuploidies. Among other factors the following are described: ultrasonography findings, family records for chromosomal aberrations and a previously affected child. Objective: To estimate the frequency of fetal chromosomal abnormalities according to advanced m...

Resumen Introducción: La deleción en la región 22q11.2 es considerada la microdeleción más frecuente en humanos, caracterizándose por una gran diversidad de rasgos clínicos, que hace difícil su diagnóstico. Objetivo: describir las características fenotípicas de los pacientes que ya tienen un diagnóstico molecular de la deleción 22q11.2, de esta man...

Resumen Introducción: La deleción en la región 22q11.2 es considerada la microdeleción más frecuente en humanos, caracterizándose por una gran diversidad de rasgos clínicos, que hace difícil su diagnóstico. Objetivo: describir las características fenotípicas de los pacientes que ya tienen un diagnóstico molecular de la deleción 22q11.2, de esta man...

Background: In reviewed literature, several patients with duplication or partial tri-somy of the 6p region have been described. Most of these cases are associated with a partial monosomy of another chromosome. It has been suggested that partial trisomy 6p constitutes a well-defined syndrome. The aim of the study: To achieve a better clinical deline...

5.1-Introducción 5.2-Estructura organizativa de un laboratorio de citogenética 5.3-Recomendaciones pre analíticas. 5.4-Manejo y preparación de la muestra. 5.5-El análisis diagnóstico en citogenética 5.5.1-El cariotipo 5.6-Diferentes técnicas diagnósticas utilizadas en el laboratorio de citogenética. 5.6.1-Hibridación in situ fluorescente 5.6.2-QF-P...

Introducción: En la literatura varios pacientes con duplicación o trisomía parcial de la región 6p han sido descritos, en la mayoría de los casos asociados a una monosomía parcial de otro cromosoma. Se ha sugerido que la trisomía parcial 6p constituye un síndrome bien definido. Objetivo: lograr una mejor delineación clínica del síndrome 6p a través...

Revista Cubana de Obstetricia y Ginecología. 2020;46(3):e648 Esta obra está bajo una licencia https://creativecommons.org/licenses/by-nc/4.0/deed.es_ES 1 Revisión bibliográfica El estudio citogenético en el manejo de las parejas con aborto habitual en Cuba RESUMEN Introducción: La pérdida recurrente de embarazos en una pareja constituye una situaci...

Background: The progressive availability at a worldwide scale of smartphones with bigger computing power and equipped with high quality cameras advertise a better usage for this equipment by health care professionals. In addition, the possibility of acquiring very fast images and sharing them on the Internet by developing different applications inc...

Background: Neurodevelopmental disorders have a prevalence of approximately 3% in the population, the genetic factor is involved in this condition. Microdeletions that comprise the 2q14.1q14.3 region are rare events. The aim of the study: To describe a girl with an interstitial deletion of the 2q14 region with a severely affected phenotype and to c...

Introduction: Neurodevelopmental disorders (NDD) are featured by a delay in the acquisition of motor functions, cognitive abilities and speech, or combined deficits in these areas with the onset before the age of 5 years. Genetic causes account for approximately a half of all NDD cases. Objective: to describe alterations of the genome implied in n...

Revista Cubana de Pediatría. 2020;92(4):e918 1 Esta obra está bajo una licencia https://creativecommons.org/licenses/b y-nc/4.0/deed.es_E S ABSTRACT Introduction: Neurodevelopmental disorders (NDD) are featured by a delay in the acquisition

Introducción: El diagnóstico prenatal mediante la hibridación fluorescente in situ disminuye el tiempo de diagnóstico al no ser necesario el cultivo celular. Objetivo: Describir las características y experiencias del diagnóstico prenatal por hibridación fluorescente in situ en Cuba. Método: En amniocitos in situ se aplicaron sondas CEP y LSI para...

Introduction: Prenatal diagnosis by fluorescent in situ hybridization decreases the time of diagnosis not being necessary the cell culture. Objective: To describe the characteristics and experiences of prenatal diagnosis by fluorescent in situ hybridization in Cuba. Method: In in situ amniocytes CEP catheters were applied and LSI for the detect...

About the diagnosis of PWS in Cuba

What's already known about this topic? Warburton's classic work, on the carriers of de novo balanced structural chromosomal aberrations, reported risk values of an affected phenotype of 6.7% (for reciprocal translocations and inversions). What does this study add? Present study is the most extensive on this topic in Latin America. It reports risk...

Introduction: The fluorescence in situ hybridization (FISH) used in prenatal diagnosis allows the detection of chromosomal abnormalities in interphase cells without a labor-intensive techniques such as cell culture. Objective: to describe the Cuban experience in the application of FISH to prenatal diagnosis. Methods: CEP and LSI probes (Vysis) were...

Background: Interphase chromosome-specific multicolor banding (ICS-MCB) has been developed for studying whole chromosomes in interphase nuclei at any stage of the cell cycle at molecular resolution. Previously, important biomedical discoveries have been made using the technique. In the postgenomic era, a need appears to exist for a reevaluation of...

Background: Jacobsen syndrome is a rare contiguous gene disorder caused by partial deletion of the distal part of the long arm of chromosome 11 (prevalence 1/100,000 live births). Most of the reported cases are caused by de novo deletion and in 15% result from an unbalanced segregation of a familial balanced translocation. The spectrum of clinical...

Introduction: Phenotypes produced by chromosomal aberrations may be characterized by intellectual disability, at early age expressed as delay in the neurological development of the affected patient. Besides, a variety of dysmorphisms, accompanied by prenatal or postnatal growth defects may appear. However, the wide spectrum of different chromosomal...

Introduction: Duplications are unbalanced structural chromosomal aberrations that affect the genome due to an increase in the gene dosage. According to international literature, chromosome 10 is the most affected by its relationship with intellectual disability and its clinical repercussion. Objective: Describe the correlation between the chromosom...

Cytogenetic studies are frequently used in the diagnosis of pathologies causing chromosomal instability. Even when chromosomal instability disorders are mostly genetic in origin, is unknowledgeable that some viral infections cause chromosomal instability. A common finding in these patients is microcephaly. The aim of this work was to analize the as...

The karyotype phenotype correlation in patients with unbalanced chromosomal aberrations constitutes a valuable knowledge in the practice of clinical genetics, as clinical delineation and dysmorphic features that distinguish them, guide the clinical geneticist to propose an initial etiologic diagnosis, compared to the great diversity of genetic synd...

Polyploidies as chromosomal aberration have been studied as a condition concerning only the plant kingdom; however, in humans they were considered as a lethal condition. The most frequently detected are complete triploidies and tetraploidies, as well as diploid/triploid and diploid/ tetraploid mixoploids. We present a case with 2n/4n mosaicism, con...

The study of the chromosomes and the anomalies in them must be of interest to the medical community. In Cuba there is no computerized system or a centralized database that collects information on structural chromosomal anomalies and is consulted online by researchers and specialists in medicine. Therefore, this research was carried out with the obj...

ABSTRACT 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 fi ve Lat...

Objective: We aimed to describe de novo balanced chromosome rearrangements (DNBCR) in a Latin American population and their effects carriers’ phenotypes. Methods: We analyzed prenatal diagnosis cases documented from 1981 to 2016 at 13 cytogenetic laboratories across five Latin American countries for DNBCR data. We also analyzed available pathology...

Resumen: El fenotipo de las aberraciones cromosómicas se distingue por la presencia de discapacidad intelectual detectada desde muy tempranas edades por retardo variable del neurodesarrollo, diversidad de dismorfismos acompañados o no de defectos del crecimiento prenatal o posnatal. La gran variedad de posibles rearreglos cromosómicos no siempre pe...

El programa de Diagnóstico Prenatal Citogenético (DPC) ha contribuido a una disminución significativa de las anomalías cromosómicas en el país, especialmente el síndrome Down, la más frecuente de todas.

El presente estudio fue realizado con el objetivo de conocer el genotipo cromosómico por análisis del cariotipo y descartar posible anomalías en 4 Búfalos del tipo río (raza Buffa lypso), producto de los primeros 2 partos de gemelos (uno de 2 hembras y el otro de hembra y macho) en esta especie, reportados en Cuba, siguiendo el protocolo de cul...

Editor Letters

Gain of copy numbers can be due to different chromosomal rearrangements such as direct or indirect duplications, translocations, small supernumerary markers chromosomes or insertions. In a 3 years-old- boy with dysmorphic features and developmental delay, chromosomal analyses revealed a derivative 5. Microdissection and reverse fluorescence in situ...

Introduction: chromosome 21 monosomy is generally life-threatening, although cases are reported in which it appears in mosaic structure and represents an unusual finding in genetic studies carried out in pediatrics. Case presentation: a seven years-old girl was referred to the genetic counseling service because she presented with severe congenital...

Abstract At the present time one of the most frequent pregnancy associated risks is the advanced maternal age, which is related with high incidence of chronic illnesses that affect both the pregnant woman and her child, and is associated with genetic and not genetic risk factors. Nowadays, it is the main cause for prenatal diagnosis. We carried out...

ABSTRACT Introduction: chromosome 21 monosomy is generally life­threatening, although cases are reported in which it appears in mosaic structure and represents an unusual finding in genetic studies carried out in pediatrics. Case presentation: a seven years­old girl was referred to the genetic counseling service because she presented with severe co...

By clinical evaluation of a patient they can be detected characteristics indicating a possible structural chromosome aberration. The present study is an evaluation or reevaluation of a group of patients with these characteristics, using the technique of high resolution and FISH. We proceeded to implement a technique of high-resolution karyotype, ac...

Abstract The analysis and classification of chromosomes is an important task in medicine, applied to the rapid detection, prognosis and assessment of ge- netic diseases. This analysis is done with the help of a standard structure called karyotype. The karyotype creation is a complicated task that requi- res a lot of time from the specialist in this...

Objective: This study is aimed to probe the usefulness of refrigerated aliquots of amniotic fluid to be used for fluorescence in situ hybridization (FISH) in order to perform an accurate prenatal diagnosis avoiding the risk related to an additional amniocentesis procedure and the psychological stress to the pregnant woman and her family. Methods:...

Se reporta el diagnostico prenatal de 8 embarazos gemelares de los 5 fueron biamnioticos y 3 monoamniotico. Se describe la complejidad del diagnostico prenatal teniendo en cuenta el tipo de embarazo gemelar presente.

Introducción: según el origen, existen diferentes tipos de reordenamientos cromosómicos estructurales tales como: heredados, de “novo” y desconocidos; en dependencia de esto será el riesgo en la descendencia y el asesoramiento genético específico a los pacientes y a sus familiares. Objetivo: describir los diferentes reordenamientos cromosómicos est...

Introduction: According to the source, there are different types of structural chromosome rearrangements such as inherited, “novo” and unknown; depending on the risk in offspring and specific genetic counseling to patients and their families. Objective: Describe different structural chromosomal rearrangements detected by origin. Methods: The necess...

In the human genome there are variations diagnosed by Conventional Cytogenetic or Molecular Cytogenetics that apparently do not involve deleterious changes. Instead, it is proven that these variations occasionally are cause of severe phenotypic alterations. This paper aims an update about breakthroughs in the diagnosis of genomic variations; evalua...

ABSTRACT Inversions are structural rearrangements arising from a rotation of a segment in a chromosome; if the segment contains the centromere the inversion is pericentric, otherwise, is paracentric. Cytogenetic prenatal diagnosis was carried out to a patient in amniotic liquid at 16 weeks of pregnancy. The study was referred for advanced maternal...

The reciprocal translocation carriers usually may have a high risk of recurrent miscarriage or a child who would be mentally and physically abnormal. We report a female fetus with a translocation between chromosomes 5 and 18 detected at prenatal diagnosis. Advanced maternal age was the indication for amniocentesis. The chromosomal analysis of other...

Se realizó un estudio descriptivo, tipo serie de casos en un periodo de Enero a Diciembre del 2011 que permitió determinar el comportamiento evolutivo del fenotipo en pacientes con inversiones y deleciones en cromosomas del grupo C mediante la correlación cariotipo-fenotipo. La muestra estuvo constituida por cuatro pacientes en edad puberal o a...

Abstract: A 22q11.2 deletion syndrome was suspected in a patient with language im- pairment, crowded teeth, immunodeficiency, long philtrum and dismorphic features. Conventional cytogenetic analysis showed the karyotype: 46, XY, t (14;17)(q32;q11.2). This translocation has not being reported previously in a patient with a constitutional disease. De...

Frecuencias de reordenamientos cromosómicos estructurales acorde a las indica-ciones para estudios citogenéticos prenatales y postnatales. Structural chromosomal reordering frequencies following the recommendations for prenatal and postnatal cytogenetic studies Resumen Las aberraciones cromosómicas estructurales son de gran importancia por el riesg...

Pericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2 %. A woman with repeated first trimester pregnancy loss was referred to cytogenetic laboratory of The National Center of Human Genetics. A karyotype conventional banding technique at resolution of ~450 was made. The patient presented an unusual per...

Introducción. El cromosoma 14 contiene aproximadamente 1200 genes correspondientes a unos 100 millones de pares de bases, representan del 3-3,5 % del total de ADN en las células. Actualmente hay aproximadamente unos 60 genes asociados a enfermedades genéticas, como la enfermedad de Niemann-Pick, el síndrome Krabbe, el bocio familiar, retinitis pigm...

RESUMEN El propósito de este trabajo es analizar los resultados de los estudios prenatales citogenéticos realizados a partir de mues-tras de sangre de cordón umbilical, en el periodo de Enero del 2002 a Diciembre del 2006, en el que se realizaron 106 cordocentesis por indicación de cariotipos fetales. La obtención de cromosomas se efectuó a partir...

Some changes in chromosome morphology, which are detected in cytogenetic diagnostics, are not associated with clinical defects presenting a dilemma for the genetic counsellor, especially during prenatal diagnosis; this is the reason why a proper discrimination between innocuous variants and true anomalies is crucial to allow precise counselling. Po...

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 detección de...

los que constituían un mosaico cromosómico y de ellos, los que presentaban aberraciones cromosómicas estructurales. Los casos los siguieron médicos y enfermeras especialistas en genética. Se encontraron 5 casos con mosaicos de aberraciones estructurales para 0,04 %, 4 son confirmados por el seguimiento citogenético, de los cuales 3 presentaban anom...

Resumen El Síndrome de Cefalopolisindactilia de Greig fue des-crito por primera vez en 1926 por Greig. Es una afección autosómica dominante caracterizada por polidactilia / sindactilia de manos y pies, macrocefalia, hipertelorismo y ocasionalmente anomalías cerebrales y retraso mental. En este trabajo presentamos tres miembros de una familia portad...

Sexual chromosomal anomalies are the most frequent ones at birth, having an estimated incidence of 1 in 300 to 400 pregnancies. Individuals with sexual chromosomal alte- rations present a wide phenotype range depending on the chromosome region size involved in the aberration as well as the genes localized at and around the breaking point. This...

INTRODUCTION Antenatal cytogenetic testing was started in Havana in 1984, as a diagnostic option for fetal chromosome complement. The techniques applied are amniocyte culture, chorionic villus sampling, cordocentesis and fluorescence in situ hybridization in interphase cells. OBJECTIVE Describe the results of antenatal cytogenetic testing in the cy...

Reproductive disorders may be caused by sterility, which is the inability to conceive in women and the inability to fertilize in man, or by infertility which is the lack of children by repeated abortion and / or death usually newborn. This review will address the main causes of fertility disorders and influencing genetic factors within this chromos...

Objectives: To analyze trends in cytogenetic prenatal diagnosis in Cuba and to analyze possible causes leading to a low Down syndrome prevalence in a country where the triple test is not available. Methods: An analysis of the Cuban program in prenatal cytogenetic diagnosis from 1984 to 2012 was conducted. Results are described, with particular e...

Some changes in chromosome morphology, which are detected in cytogenetic diagnostics, are not associated with clinical defects presenting a dilemma for the genetic counsellor, especially during prenatal diagnosis; this is the reason why a proper discrimination between innocuous variants and true anomalies is crucial to allow precise counselling. Po...

El diagnóstico prenatal citogenético (DPC) es una eficaz opción diagnóstica para el complemento cromosómico fetal. Este programa se inicia en la Habana específicamente en el laboratorio de citogenética en el año 1983. Se han aplicado diferentes modalidades para el DPC como la amniocentesis, la biopsia de vellosidades coriónicas, la cordocentesis...

Pericentric inversions are among the most frequent chromosomal rearrangements with a frequency of 1-2 %. A woman with repeated first trimester pregnancy loss was referred to cytogenetic laboratory of The National Center of Human Genetics. A karyotype conventional banding technique at resolution of ~450 was made. The patient presented an unusual...

el diagnóstico prenatal. Se diagnosticaron 104 casos de alto riesgo genético, predominando la indicación de alteraciones fetales detectadas por ecografía. Fueron diagnosticados 11 casos positivos, de los cuales 6 fueron Síndromes Down, 2 fueron Síndromes de Patau , un Síndrome Edward, una polisomia del X y una deleción 22q11.2. La mitad de los caso...