A chromosome No. 2 abnormality in a child with a few congenital defects

An abnormal chromosome No2 was found in the case of a child with an imperforate anus, a recto-vaginal fistula, unilateral atresia of the inner canal ,and deformity of the external ear. G-banding studies revealed an insertion of a segment of the short arm into the long arm in one of the chromosomes No. 2 of the proband, the apparent result of a de novo phenomenon of chromosome rearrangement.