case_images: PMC4369973_01
case_images: Newborn with imperforate anus.
case_images: omu06201.jpg
case_images: PMC4369973_01_omu06201.jpg
case_images: OMU062F1
case_images: At birth, SUA, imperforate anus and club foot with talipes equinovarus abnormality in the left lower limb were noted (Fig. 1).
case_images: X-ray images of the patient (A) showing a dilated descending and rectosigmoid colon without the gas shadow in the distal rectum, and (B) dislocation of the left knee.
case_images: omu06202.jpg
case_images: PMC4369973_01_omu06202.jpg
case_images: OMU062F2
case_images: Plain X-ray abdomen showed dilation of the descending and rectosigmoid colon without the gas shadow in the distal rectum (Fig. 2). The skeletal survey revealed hemi-vertebrae and block in the lumbar vertebrae, and also dislocation of the left knee joint (Fig. 2).
case_images: Karyotype of the patient showing 46, X,i (Yp): isochromosome Yp.
case_images: omu06203.jpg
case_images: PMC4369973_01_omu06203.jpg
case_images: OMU062F3
case_images: The karyotype in the peripheral blood revealed Y chromosomal abnormality, i.e. deletion in the long arm (Yq), while duplication in the short arm of the Y chromosome (Yp) [46, X,i (Yp): isochromosome Yp] (Fig. 3).