title: Multiple congenital anomalies, thymic dysplasia, severe congenital heart disease, and oligosyndactyly with a deletion of the short arm of chromosome 5.
abstract: A female infant was born at term with congenital anomalies and a deletion of the short arm of chromosome 5. The anomalies included thymic dysplasia and lymphocyte-depleted nodes of the type seen in combined immune deficiency; atrial and ventricular  septal defects, pulmonary valve atresia, and anomalous pulmonary-bronchial communication through the lungs; and shortness of forearms with syndactyly of fingers. A review indicates that the association of cardiac lesions, thymic dysplasia, oligosyndactyly and deletion of chromosome 5p is unique.
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D004062:DiGeorge Syndrome / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics*; D007231:Infant, Newborn; D013576:Syndactyly / Q000235:genetics*; D013577:Syndrome; D013950:Thymus Gland / Q000473:pathology