Autosomy 18 Research Paper

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ABSTRACT Trisomy 18 is a common autosomal trisomy syndrome. It is due to either full or partial presence of an extra copy of chromosome 18. Its prevalence correlates positively with advanced maternal age. Affected infants usually exhibit a variable pattern of anomalies including growth restriction, marked psychomotor and cognitive disability and an array of physical findings including characteristic craniofacial features, clenched fists with overriding fingers, small fingernails, underdeveloped thumbs, short sternum and heart and kidney anomalies. The majority of these infants die within the first year of life; only 5% to 10% of them survive longer. Their death is primarily due to cardio-respiratory failure. We report this case of trisomy…show more content…
The laboratory evaluation for sepsis was reported later as negative. Subsequent abdominal ultrasonogram revealed a left sided hydronephrosis. Echocardiogram confirmed the presence of multiple small ventricular septal defects (VSD), patent ductus arteriosus (PDA) of moderate size and markers of pulmonary hypertension. After discussion with surgical services two management options were considered; the first was surgical intervention to facilitate patient care and possibly ameliorate the course of illness and the second was the expectant conservative management. As the long-term outcomes were dependant on the final diagnosis, parents and treating team opted for no surgical intervention at this stage. The following days were significant for gradual deterioration of respiratory functions requiring mechanical ventilation whereas circulatory status remained

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