Journal of Genetic Medicine

Korean Society of Medical Genetics and Genomics (대한의학유전학회)
권호 표지

Unusual chromosomal features in a child with gradual disappearance of right ulna (mono ostolic osteolysis)

  • Goswami, Hit K. (Department of Genetics, Bhopal University) ;
  • Shrivastava, Nirhhay (Department of Orthopedics, Gandhi Medical College and associated Hospitals) ;
  • Gopal, Shiv Kumar (Department of Orthopedics, Gandhi Medical College and associated Hospitals) ;
  • Sharna, Sanjay (Department of Orthopedics, Gandhi Medical College and associated Hospitals) ;
  • Chandorkar, Manoj (Genetic Institute for Human Welfare) ;
  • Lee, In-Hwan (Department of Anatomy, Keimyung University School of Medicine) ;
  • Chang, Sung-Ik (Department of Anatomy, Keimyung University School of Medicine)
  • Published : 1997.03.01
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Abstract

A nine month old male child presenting degenerating right ulna (massive osteolysis) has been followed up for two years. The bone completely disappeared due to abscesses on the right forearm and without orthopedic or haematological complications. Repeated lymphocyte cultures showed somatic pairing (mostly chromosome pair 5), end to end association involving chromosome 14, 21, 21 and 16, and satellite enlargement in a high proportion of cells with an otherwise normal 46,XY karyotype. These observations are compared with 13 other types of orthopaedic patients, and we opine that cumulative picture of chromosomal aberrations appears to correspond with the present rare anomaly "Mono Ostolic Osteolysis" involving right ulna. None of the controls or any other orthopaedic anomaly studied hereunder exhibits this chromosomal picture.

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