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Deleção intersticial 8p23.1-8p23.2 – Caso clínico de diagnóstico pós-natal
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Advisor(s)
Abstract(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.
Description
Keywords
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
Citation
Nascer e Crescer 2013; 22(3): 178-181