Sex chromosome marker: Clinical significance and DNA characterization

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Abstract
Two patients are described with a virtually identical marker sex chromosome that was so small as to defy classification by conventional cytogenetic studies. DNA hybridization with Y probes allows classification into Y or non‐Y, and in situ hybridization with X centromere specific sequences, into X or non‐X. One patient was proven to have a Y fragment, and the second, an X fragment. DNA characterization is important since prognosis and clinical management depends on proper identification of the small marker sex chromosome.