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.
D000015:Abnormalities, Multiple / Q000235:genetics; D001006:Anus, Imperforate / Q000235:genetics*; D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D004423:Ear / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007223:Infant; D014624:Vaginal Fistula / Q000235:genetics*