Identification and characterisation of a small marker chromosome using non-isotopic in situ hybridisation with X and Y specific probes.

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RESUMO

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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