ABSTRACT
OBJECTIVE: To verify the prevalence and perform the clinical characterization of oral clefts in a sample of patients with trisomy of chromosome 18 in Southern Brazil. METHODS: This was a retrospective cross-sectional study, performed in a reference clinical genetic service in Southern Brazil. The initial sample consisted of 77 patients diagnosed in the neonatal period with trisomy 18 treated at the Clinical Genetics Service of a referral hospital at Federal University of Health Sciences of Porto Alegre (UFCSPA). The patients' diagnosis was confirmed by karyotype and care was provided during their stay in the intensive care unit (ICU) of the hospital that is a reference in Southern Brazil for care for malformed patients. The period covered was from 1975 to 2020. RESULTS: During the study period, 77 patients diagnosed with trisomy 18 were treated, most of them in the ICU. Of these, 13 individuals were excluded due to incomplete data. The final sample consisted of 64 patients with an average age of 2.4 years of life, ranging from one day to 16 years old, the majority of whom were female. Regarding face dysmorphisms identified in the sample, three (4,68%) patients had cleft lip and two (3,11%) had cleft lip and palate. CONCLUSIONS: This study contributed to the recognition of the characteristics and prevalence of oral clefts in individuals with trisomy 18 in a sample of patients from Southern Brazil. In addition, we described the clinical alterations found in patients with oral clefts, as well as other associated comorbidities, such as cardiac, neurological and pulmonary comorbidities, as well as cranial and facial dysmorphisms.
Subject(s)
Cleft Lip , Cleft Palate , Trisomy 18 Syndrome , Humans , Cross-Sectional Studies , Female , Retrospective Studies , Male , Trisomy 18 Syndrome/epidemiology , Trisomy 18 Syndrome/diagnosis , Trisomy 18 Syndrome/genetics , Prevalence , Adolescent , Infant, Newborn , Brazil/epidemiology , Child , Infant , Child, Preschool , Cleft Palate/epidemiology , Cleft Palate/genetics , Cleft Lip/epidemiology , Cleft Lip/geneticsABSTRACT
INTRODUCCIÓN: En Chile, la norma técnica de la Ley N° 21.030 de 2017 considera tres aneuploidías como letales; las trisomías 9, 13 y 18, cuyo diagnóstico se confirma con un cariograma. No existe a la fecha registro nacional de frecuencia prenatal de estas patologías. OBJETIVO: Determinar la frecuencia de trisomías 9, 13 y 18 en los estudios citogenéticos prenatales en muestras de células obtenidas con amniocentesis y cordocentesis, procesados en el Laboratorio de Citogenética del Hospital Clínico Universidad de Chile. MATERIALES Y MÉTODOS: Estudio descriptivo y retrospectivo de los resultados de cariograma de líquido amniótico (LA) y sangre fetal (SF), procesados desde enero de 2000 a diciembre de 2017. RESULTADOS: Se incluyeron 2.305 muestras (402 de SF y 1.903 de LA), de ellas 442 (19%) fueron trisomías letales (TL), dentro de ellas fueron TL libres 416 (95%), TL estructurales 15 (2,7%) y mosaicos 11 (2,3%). La trisomía 18 fue en ambos tipos de muestra la más frecuente (73,5%), seguida de trisomía 13 (24,2%) y trisomía 9 (2,3%). Se desglosan resultados conforme al tipo de TL, muestra, motivo de derivación, edad materna y edad gestacional. CONCLUSIONES: El cariograma confirma el diagnóstico de aneuploidías y aporta datos relevantes para el consejo genético. La cromosomopatía letal más frecuente fue la trisomía 18. Se observó que uno de cada cinco cariogramas referidos por anomalías congénitas y/o marcadores de aneuploidía revelaban una TL.
INTRODUCTION: In Chile, the technical standard of Law No. 21,030 of 2017 considers three aneuploidies as lethal; trisomies 9, 13 and 18, whose diagnosis is confirmed with a Karyotype. To date there is not a national registry of prenatal frequency of these pathologies. OBJECTIVE: To determine the frequency of trisomies 9, 13 and 18 in prenatal cytogenetic studies in samples of cells obtained with amniocentesis and cordocentesis, processed in the Cytogenetics Laboratory of the Universidad de Chile Clinical Hospital. MATERIALS AND METHODS: Descriptive and retrospective study of the results of karyotypes of amniotic fluid (LA) and fetal blood (SF) processed from January 2000 to December 2017. Results: 2,305 samples (402 of SF and 1,903 of LA) were included, of which 438 (19%) were lethal trisomies (TL), corresponding to free TL 416 (95%), structural TL 12 (2,7%) and mosaics 10 (2.3%). Trisomy 18 was the most frequent in both types of sample (73,5 %), followed by trisomy 13 (24,2%) and trisomy 9 (2.3%). RESULTS are shown according to the type of TL, sample, reason for referral, maternal age and gestational age. CONCLUSIONS: The karyotype confirms the diagnosis of aneuploidies and provides relevant data for genetic counseling. The most frequent lethal chromosomopathy was trisomy 18. It was observed that one in five karyotypes referred for congenital anomalies and / or aneuploidy markers revealed a TL.
Subject(s)
Humans , Female , Pregnancy , Adolescent , Adult , Middle Aged , Young Adult , Prenatal Diagnosis/methods , Cytogenetic Analysis , Trisomy 13 Syndrome/diagnosis , Trisomy 18 Syndrome/diagnosis , Prenatal Diagnosis/statistics & numerical data , Trisomy , Epidemiology, Descriptive , Retrospective Studies , Fetal Blood , Karyotype , Trisomy 13 Syndrome/genetics , Trisomy 13 Syndrome/epidemiology , Trisomy 18 Syndrome/genetics , Trisomy 18 Syndrome/epidemiology , Amniocentesis , Amniotic Fluid , AneuploidyABSTRACT
La existencia de una doble aneuploidía en un mismo individuo es una anomalía cromosómica poco frecuente que involucra, mayoritariamente, al par sexual y al cromosoma 21. En el presente artículo, se expone el caso clínico de un niño con la doble aneuploidía 48,XXY,+18. El fenotipo del paciente era coincidente con el síndrome de Edwards. El diagnóstico se efectuó mediante la realización del estudio citogenético de linfocitos de sangre periférica. En la bibliografía revisada, solo se han encontrado 15 casos reportados de pacientes con síndromes de Klinefelter y Edwards.
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.
Subject(s)
Humans , Male , Infant, Newborn , Trisomy 18 Syndrome/genetics , Klinefelter Syndrome/genetics , Aneuploidy , Trisomy 18 Syndrome/complications , Klinefelter Syndrome/complicationsABSTRACT
The co-existence of a double chromosomal abnormality in one individual is a rare event, even more the simultaneous presence of Klinefelter (XXY) and Edwards (trisomy 18) syndrome. The aim of this article is to report the case of a newborn with a double aneuploidy, which consists in the coexistence of Edwards and Klinefelter syndrome. The patient's phenotype correlates mainly with Edwards syndrome. The diagnosis is made by performing the cytogenetics (karyotype) of peripheral blood lymphocytes. Only 15 cases of patients with Klinefelter and Edwards syndromes had been reported in literature so far.
La existencia de una doble aneuploidía en un mismo individuo es una anomalía cromosómica poco frecuente que involucra, mayoritariamente, al par sexual y al cromosoma 21. En el presente artículo, se expone el caso clínico de un niño con la doble aneuploidía 48,XXY,+18. El fenotipo del paciente era coincidente con el síndrome de Edwards. El diagnóstico se efectuó mediante la realización del estudio citogenético de linfocitos de sangre periférica. En la bibliografía revisada, solo se han encontrado 15 casos reportados de pacientes con síndromes de Klinefelter y Edwards.
Subject(s)
Aneuploidy , Klinefelter Syndrome/genetics , Trisomy 18 Syndrome/genetics , Humans , Infant, Newborn , Klinefelter Syndrome/complications , Male , Trisomy 18 Syndrome/complicationsABSTRACT
El síndrome de la trisomía 18 es un trastorno clínico y genético, el cual presenta un cromosoma 18 extra completo en cada célula, variante que se denomina trisomía libre. Además, puede ocurrir en la forma parcial y mosaico. Clínicamente, se caracteriza por retardo del crecimiento intrauterino, del desarrollo psicomotor y mental, hallazgos craneofaciales característicos, cardiopatía congénita, pelvis hipoplásica, manos empuñadas y pies en mecedora, entre otros. La trisomía 18 en mosaico se presenta cuando células con trisomía del cromosoma 18 y líneas celulares normales existen en un mismo individuo, y corresponde al 5% de los casos. Los hallazgos fenotípicos son muy variables y no se evidencia una correlación entre el porcentaje de células trisómicas y los hallazgos encontrados. El objetivo de este informe es presentar una serie de cinco casos de trisomía 18 en mosaico. Se hace énfasis en los aspectos clínicos con la finalidad de orientar una adecuada atención médica interdisciplinaria y brindar un oportuno asesoramiento genético.
Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others. The mosaic T18 occurs when cells with T18 and normal cell lines exist in the same individual and correspond to 5% of cases. The phenotypic findings are highly variable and no correlation was evident between the percentage of trisomic cells and the findings found. The aim of this report is to present a series of five cases of mosaic T18 with emphasis on clinical aspects in order to guide an interdisciplinary adequate medical care and provide timely genetic counseling.
Subject(s)
Humans , Female , Infant, Newborn , Infant , Trisomy 18 Syndrome/genetics , Mosaicism , Phenotype , Trisomy 18 Syndrome/diagnosisABSTRACT
Trisomy 18 syndrome (T18) is a clinical and genetic disorder, which has a full extra chromosome 18 in each cell, variant that is called free trisomy. In addition, it can occur in partial and mosaic form. It is characterized by intrauterine growth restriction, psychomotor and mental retardation, characteristic craniofacial findings, congenital heart disease, hypoplastic pelvis, clenched hand and rocker-bottom foot, among others. The mosaic T18 occurs when cells with T18 and normal cell lines exist in the same individual and correspond to 5% of cases. Trisomía 18 en mosaico. Serie de casos Mosaic trisomy 18. Series of cases The phenotypic findings are highly variable and no correlation was evident between the percentage of trisomic cells and the findings found. The aim of this report is to present a series of five cases of mosaic T18 with emphasis on clinical aspects in order to guide an interdisciplinary adequate medical care and provide timely genetic counseling.
El síndrome de la trisomía 18 es un trastorno clínico y genético, el cual presenta un cromosoma 18 extra completo en cada célula, variante que se denomina trisomía libre. Además, puede ocurrir en la forma parcial y mosaico. Clínicamente, se caracteriza por retardo del crecimiento intrauterino, del desarrollo psicomotor y mental, hallazgos craneofaciales característicos, cardiopatía congénita, pelvis hipoplásica, manos empuñadas y pies en mecedora, entre otros. La trisomía 18 en mosaico se presenta cuando células con trisomía del cromosoma 18 y líneas celulares normales existen en un mismo individuo, y corresponde al 5% de los casos. Los hallazgos fenotípicos son muy variables y no se evidencia una correlación entre el porcentaje de células trisómicas y los hallazgos encontrados. El objetivo de este informe es presentar una serie de cinco casos de trisomía 18 en mosaico. Se hace énfasis en los aspectos clínicos con la finalidad de orientar una adecuada atención médica interdisciplinaria y brindar un oportuno asesoramiento genético.