RESUMEN
Objective@#To explore the genetic etiology of a child with moderate mental retardation and multiple malformations.@*Methods@#The child and his parents underwent conventional G banding karyotype analysis and single nucleotide polymorphism-based mircoarray (SNP-array) scan. A systematic review for chromosome 13q deletions was also conducted to explore the correlation between genotype and clinical phenotypes.@*Results@#G banding karyotype of the child showed a partial deletion in the long arm of chromosome 13 described as 46, XY, del(13)(q32) . SNP-array detected a deletion fragment of 11.367 Mb in 13q32.1-q33.3 region, which encompassed 30 OMIM (Online Mendelian Inheritance in Man) genes including FARP1, STK24 and ZIC2. The parents were found with no obvious abnormality in their karyotypes and SNP-array results, suggesting a de novo origin for the deletion. Combined with previous reported cases, chromosomal 13q deletions seem to have various pathogenic effects on the patients.@*Conclusion@#Chromosomal 13q32.1-q33.3 deletion probably underlies the disease phenotype in the child, and EFNB2 may be a candidate gene for congenital heart defect, genital malformation, hypospadias and anorectal malformations.
RESUMEN
La coartación aórtica es una cardiopatía congénita (Cc) de muy difícil diagnóstico antenatal. La forma neonatal es de presentación crítica con dependencia ductal, por lo que la sospecha antenatal permite programar un adecuado manejo neonatal inmediato. En esta tercera publicación, destacamos la importancia de la visualización de una desproporción de las 4 cámaras como marcador sonográfico de Cc. En nuestra serie de Cc, hemos detectado 8 fetos con desproporción de las 4 cámaras; 3 de ellos resultaron portadores de coartación aórtica y 2 portadores de aneuploidias. Reportamos los hallazgos in utero, el resultado postnatal y la conducta más apropiada para la inclusión de este signo como marcador de coartación aórtica.
Coarctation of the aorta remain difficult to identify during the antenatal period. Prenatal detection of the shelf of the coarctation may be difficult to image in the fetus, perhaps related to the normal patency of the ductus arteriosus. The neonatal form is critical and ductus dependent. Antenatal detection could be useful to programme in utero transport or a more opportune intervention in the neonatal period. One of the markers of coarctation of the aorta is ventricular discrepancy or disproportion of the four-chamber view. Among 8 fetuses with disproportion diagnosed in our series, there were 3 coarctation and 2 chromosomal abnormalities. We discuss the clues for in utero detection of disproportion. We considered that the diagnosis of discrepancy between the chambers at the level of the four-chamber view is a tool for the prenatal diagnosis of coarctation of the aorta.