title: Minute chromosomes replacing the Y chromosome carry Y-specific sequences by restriction fragment analysis and in situ hybridization.
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.
mesh_terms: D000328:Adult; D001483:Base Sequence; D002675:Child, Preschool; D002869:Chromosome Aberrations; D002871:Chromosome Banding; D002872:Chromosome Deletion; D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008297:Male; D008540:Meiosis; D009693:Nucleic Acid Hybridization; D009845:Oligospermia / Q000235:genetics; D014998:Y Chromosome
chemical_list: D004262:DNA Restriction Enzymes; D015252:Deoxyribonucleases, Type II Site-Specific; C024403:GGCC-specific type II deoxyribonucleases