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Deleção intersticial 8p23.1-8p23.2 – Caso clínico de diagnóstico pós-natal
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Orientador(es)
Resumo(s)
Introdução: A deleção cromossómica 8p23 apresenta um
espectro clínico variável que se deve à extensão da deleção ou
da região do ponto de quebra do material genético.
Caso clínico: Grávida de 23 semanas de gestação referenciada
ao Centro de Diagnóstico Pré Natal por bradiarritmia fetal.
A ecocardiografia fetal revelou anel pulmonar estreito e foramen
oval grande. Parto eutócico às 40 semanas de gestação de um
feto do sexo masculino e com peso abaixo do percentil 10. A
ecocardiografia pós-natal revelou: defeito perimembranoso do
septo ventricular, comunicação interauricular e estenose moderada
da válvula pulmonar. Durante as consultas de seguimento
verificaram-se características dismórficas, atraso de desenvolvimento
e alterações do comportamento. Foram realizados estudos
citogenéticos e de citogenética molecular; o cariótipo de
ambos os progenitores não revelou alterações. O cariótipo final
da criança foi definido como : 46,XY,del(8)(p23.1p23.2)dn.
Conclusão: As alterações cardíacas estão relacionadas
com a haploinsuficiência do gene GATA4. A deleção desta região
crítica está também associada a atraso mental ligeiro, alterações
do comportamento e dismorfia facial ligeira, características presentes
no espectro clínico do caso apresentado.
ABSTRACT Introduction: The features of an 8p23 deletion are likely to be a result of the loss of a number of different genes found in this region. The variable clinical features could be explained by the extent of the deletion or variation in the breakpoints. Case report: A pregnant patient was referred for fetal echocardiography at 23 weeks gestation, because of fetal bradyarrhythmia, which showed a large foramen oval and mild pulmonary stenosis. A fetal male was born at 40 weeks, with a birth weight below the 10th centile. Postnatal echocardiography revealed: perimembranous ventricular septal defect, atrial septal defect and mild pulmonary valvar stenosis. During follow-up, dysmorphic features, development delay and behavioural issues were noticed. Cytogenetic and molecular cytogenetic analysis were performed. Parental chromosomes were normal, so the child’s final karyotype was defined as 46,XY,del(8)(p23.1p23.2)dn. Conclusion: Congenital heart defects are related with haploinsufficiency of gene GATA4. The deletion of this critical region is associated with mild mental retardation, behavioral problems and mild facial dysmorphy.
ABSTRACT Introduction: The features of an 8p23 deletion are likely to be a result of the loss of a number of different genes found in this region. The variable clinical features could be explained by the extent of the deletion or variation in the breakpoints. Case report: A pregnant patient was referred for fetal echocardiography at 23 weeks gestation, because of fetal bradyarrhythmia, which showed a large foramen oval and mild pulmonary stenosis. A fetal male was born at 40 weeks, with a birth weight below the 10th centile. Postnatal echocardiography revealed: perimembranous ventricular septal defect, atrial septal defect and mild pulmonary valvar stenosis. During follow-up, dysmorphic features, development delay and behavioural issues were noticed. Cytogenetic and molecular cytogenetic analysis were performed. Parental chromosomes were normal, so the child’s final karyotype was defined as 46,XY,del(8)(p23.1p23.2)dn. Conclusion: Congenital heart defects are related with haploinsufficiency of gene GATA4. The deletion of this critical region is associated with mild mental retardation, behavioral problems and mild facial dysmorphy.
Descrição
Palavras-chave
Aconselhamento genético alterações cardíacas congénitas análise citogenética deleção 8p23.1 diagnóstico pré-natal GATA-4 Congenital heart defect cytogenetic analysis 8p23.1 deletion syndrome genetic counselling prenatal diagnosis
Contexto Educativo
Citação
Nascer e Crescer 2013; 22(3): 178-181