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Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes.
  1. J A Crolla,
  2. M Smith,
  3. Z Docherty
  1. Paediatric Research Unit, United Medical School, Guy's Hospital, London.


    A 13 year old male with mild mental retardation, obesity, and poor secondary sexual differentiation was found to have a 46,X,+,mar karyotype. In situ hybridisation with X and Y specific probes proved the marker to be composed of Y centromeric and short arm material.

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