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10p13-p14 Deletion Syndrome

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A congenital condition caused by a deletion on the short arm of chromosome 10p13-p14. The NEBL gene, encoding nebulette, a heart-specific component of the sarcomere, may be responsible for the clinical findings. The condition is characterized by immunodeficiency, unusual facies, congenital heart anomalies (tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic arch, isolated anomalies of the aortic arch, and ventricular septal defect), hypoparathyroidism, and increased susceptibility to infections.


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