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

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 H...

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Bibliographic Details
Published inAmerican journal of medical genetics Vol. 22; no. 2; p. 361
Main Authors Münke, M, de Martinville, B, Lieber, E, Francke, U
Format Journal Article
LanguageEnglish
Published United States 01.10.1985
Subjects
Adult
Base Sequence
Child, Preschool
Chromosome Aberrations
Chromosome Banding
Chromosome Deletion
Deoxyribonucleases, Type II Site-Specific
DNA Restriction Enzymes
Growth Disorders - genetics
Humans
Male
Meiosis
Nucleic Acid Hybridization
Oligospermia - genetics
Y Chromosome
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Summary: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.
ISSN:0148-7299
DOI:10.1002/ajmg.1320220221