PMC4369973_01
Newborn with imperforate anus.
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At birth, SUA, imperforate anus and club foot with talipes equinovarus abnormality in the left lower limb were noted (Fig. 1).
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.
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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).
Karyotype of the patient showing 46, X,i (Yp): isochromosome Yp.
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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).