Minute chromosomes replacing the Y chromosome carry Y‐specific sequences by restriction fragment analysis and in situ hybridization

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Abstract
Two unrelated males, a 43‐year‐old man with azoospermia and a 4‐year‐old boy with stature at the 10th centile, had similar karyotypes: 46,X,min. The minutes, present in all cells analyzed, stained weakly with G‐, C‐, and Q‐banding methods. To elucidate their origin we used molecular techniques: In HaeIII digests of total genomic DNA from both individuals, no Y‐specific reiterated sequences were detected. However, restriction fragment analysis with probe pDP31 demonstrated that the patients' DNA contained the Y‐specific fragment. In situ hybridization with the same probe showed that these sequences were present on the minute chromosomes and have not been translocated elsewhere.