Estudo citogenético da região 17p11.2: a síndrome de Smith-Magenis
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Data
2010-02-25
Autores
Gamba, Bruno Faulin [UNESP]
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Editor
Universidade Estadual Paulista (Unesp)
Resumo
A síndrome de Smith-Magenis (SMS) é uma complexa anomalia caracterizada por atraso no desenvolvimento neuro-psico-motor (ADNPM), anomalias craniofaciais, esqueléticas e comportamentais. Dentre as anomalias destacamos braquicefalia, baixa estatura, distúrbio do sono, comportamentos de auto-injúria e movimentos estereotipados. SMS é causada por uma deleção intersticial do cromossomo 17(p11.2) ou mutação no gene RAI1, presente nesta região cromossômica. Sua prevalência é estimada em 1:25.000 nascidos vivos podendo chegar até 1:15.000. O diagnóstico clínico para SMS é confirmado pela técnica de citogenética molecular FISH. Neste trabalho realizamos estudo citogenético por bandamento GTG, GTG em alta resolução e FISH no total de 17 casos com suspeita clínica para SMS. Para realização de FISH foram utilizadas duas sondas comerciais da CYTOCELL ®, uma contendo o gene FU1 e outra o gene RAI1. Os resultados clínicos desta casuística comparados com a literatura internacional mostrou que embora fizemos algumas considerações, demonstramos a similaridade do diagnóstico clínico de SMS nos subgrupos SMS-del e SMS-like tanto brasileiros quanto da literatura. Os resultados citogenéticos do bandamento GTG revelaram que sete casos (7/17) apresentam deleção 17(p11.2) e o FISH confirmou a deleção tanto do gene FU1 como do gene RAI1 nos sete casos identificados. Este trabalho é de grande importância por tratar de uma afecção rara, pouco conhecida, e subdiagnosticada no Brasil. Assim destacamos que o uso de ficha clínica específica para SMS é importante para a definição da hipótese diagnóstica, 7/17 casos avaliados apresentaram deleção 17p11.2, e deleção dos genes...
Smith-Magenis syndrome (SMS) is a complex anomaly characterized by developmental delay (ADNPM), craniofacial anomalies, and behavioral disorders. Among the anomalies highlight brachycephaly, short stature, sleep disturbance, behavior of self-injury and stereotyped movements. SMS is caused by an interstitial deletion of chromosome 17 (p11.2) or mutation in the retinoic acid-induced 1 (RAI1) gene, present in this chromosomal region. Its prevalence is estimated at 1:25.000 live births and may reach up to 1:15.000. The c1inical diagnosis for SMS is confirmed by molecular cytogenetic technique of FISH. In this work we performed a cytogenetic study by GTG, GTG high resolution and FISH total of 17 cases with c1inical suspicion for SMS.To perform FISH probes were used two commercial CYTOCELL ®, one containing the FLl1 gene and another gene RAI1. The c1inical results in this series compared to the literature showed that although we made some considerations, we demonstrate the similarity of the clinical diagnosis of SMS in both sub-del SMS and SMS-like Brazilians and literature. The cytogenetic results of GTG banding revealed that seven cases (7 1 17) have deletion 17(p11.2) and FISH confirmed the deletion of both the FLl1 gene and the gene RAI1 the seven cases identified. This work is of great importance for treating arare, little known and under-diagnosed in Brazil. Thus we emphasize that the use of medical records specific to SMS is important to define the diagnosis, 7 117 cases showed stable 17p11.2 deletion, and deletion of genes FUI and RAI, no significant differences between the c1inicalfeatures of this sample group comparing it with the literature and this is about the largest sample of Brazilian SMS already described
Smith-Magenis syndrome (SMS) is a complex anomaly characterized by developmental delay (ADNPM), craniofacial anomalies, and behavioral disorders. Among the anomalies highlight brachycephaly, short stature, sleep disturbance, behavior of self-injury and stereotyped movements. SMS is caused by an interstitial deletion of chromosome 17 (p11.2) or mutation in the retinoic acid-induced 1 (RAI1) gene, present in this chromosomal region. Its prevalence is estimated at 1:25.000 live births and may reach up to 1:15.000. The c1inical diagnosis for SMS is confirmed by molecular cytogenetic technique of FISH. In this work we performed a cytogenetic study by GTG, GTG high resolution and FISH total of 17 cases with c1inical suspicion for SMS.To perform FISH probes were used two commercial CYTOCELL ®, one containing the FLl1 gene and another gene RAI1. The c1inical results in this series compared to the literature showed that although we made some considerations, we demonstrate the similarity of the clinical diagnosis of SMS in both sub-del SMS and SMS-like Brazilians and literature. The cytogenetic results of GTG banding revealed that seven cases (7 1 17) have deletion 17(p11.2) and FISH confirmed the deletion of both the FLl1 gene and the gene RAI1 the seven cases identified. This work is of great importance for treating arare, little known and under-diagnosed in Brazil. Thus we emphasize that the use of medical records specific to SMS is important to define the diagnosis, 7 117 cases showed stable 17p11.2 deletion, and deletion of genes FUI and RAI, no significant differences between the c1inicalfeatures of this sample group comparing it with the literature and this is about the largest sample of Brazilian SMS already described
Descrição
Palavras-chave
Smith-Magenis, Síndrome de, Citogenetica, Anomalias, Behavioral phenotype
Como citar
GAMBA, Bruno Faulin. Estudo citogenético da região 17p11.2: a síndrome de Smith-Magenis. 2010. 130 f. Dissertação (mestrado) - Universidade Estadual Paulista, Instituto de Biociências de Botucatu, 2010.