INTERSTITIAL DELETION 8P23.1 -8P23.2 – A CASE REPORT OF A POSTNATAL DIAGNOSIS

Authors

  • Vânia Ferreira S. Obstetrícia e Ginecologia, U. Diagnóstico Pré-Natal, Maternidade Júlio Dinis, CH Porto
  • Raquel Maciel S. Obstetrícia e Ginecologia, U. Diagnóstico Pré-Natal, Maternidade Júlio Dinis, CH Porto
  • João Casanova S. Obstetrícia e Ginecologia, U. Diagnóstico Pré-Natal, Maternidade Júlio Dinis, CH Porto
  • Sílvia Álvares S. Obstetrícia e Ginecologia, U. Diagnóstico Pré-Natal, Maternidade Júlio Dinis, CH Porto
  • Natália Oliva Teles Dep. Genética, U. Citogenética, Centro de Genética Médica Dr. Jacinto Magalhães, INSA
  • Manuela Mota Freitas Dep. Genética, U. Citogenética, Centro de Genética Médica Dr. Jacinto Magalhães, INSA
  • Maria do Céu Rodrigues S. Obstetrícia e Ginecologia, U. Diagnóstico Pré-Natal, Maternidade Júlio Dinis, CH Porto
  • Maria José Mendes S. Obstetrícia e Ginecologia, U. Diagnóstico Pré-Natal, Maternidade Júlio Dinis, CH Porto

DOI:

https://doi.org/10.25753/BirthGrowthMJ.v22.i3.10651

Keywords:

Congenital heart defect, cytogenetic analysis, 8p23.1 deletion syndrome, GATA -4, genetic counselling, prenatal diagnosis

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 haploinsuficiency of gene GATA4. The deletion of this critical region is associated with mild mental retardation, behavioral problems and mild facial dysmorphy.

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Published

2017-01-16

How to Cite

Ferreira, V., Maciel, R., Casanova, J., Álvares, S., Teles, N. O., Freitas, M. M., Rodrigues, M. do C., & Mendes, M. J. (2017). INTERSTITIAL DELETION 8P23.1 -8P23.2 – A CASE REPORT OF A POSTNATAL DIAGNOSIS. NASCER E CRESCER - BIRTH AND GROWTH MEDICAL JOURNAL, 22(3), 178–181. https://doi.org/10.25753/BirthGrowthMJ.v22.i3.10651

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Section

Case Reports

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