title: Identification of a case of Y:18 translocation using a Y-specific repetitive DNA probe.
abstract: We have used a recombinant DNA clone derived from the Y-specific 3.4-kb repeats for in situ chromosome hybridization and Southern blotting analysis to identify a case of de novo Y;18 translocation. The proband has a chromosome complement of 46,XY and a variant chromosome 18 with a Q-bright and C-positive short arm. The father has a normal male karyotype of 46,XY. The mother has a female karyotype of 46,XX and an unusually large Q-bright satellite on one chromosome 22. In situ hybridization with the 3.4-kb probe to the metaphase preparations of family members indicated that the additional Q-bright material in the proband's variant chromosome 18 derived from the Y chromosome of his father, and not from the variant chromosome 22 of his mother. On Southern hybridization, the proband had approximately twice the amount of 3.4-kb repeats per cell as his father. These observations suggest a de novo genetic rearrangement in the proband which probably occurred during the father's spermatogenesis.
authors.forename: Y F
authors.initials: YF
authors.lastname: Lau
authors.forename: K L
authors.initials: KL
authors.lastname: Ying
authors.forename: G N
authors.initials: GN
authors.lastname: Donnell
mesh_terms: D002675:Child, Preschool; D002871:Chromosome Banding; D002902:Chromosomes, Human, 16-18; D004247:DNA / Q000235:genetics*; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D008297:Male; D012091:Repetitive Sequences, Nucleic Acid; D014178:Translocation, Genetic; D014998:Y Chromosome
chemical_list: D005819:Genetic Markers; D004247:DNA; D004262:DNA Restriction Enzymes; D015246:Deoxyribonuclease EcoRI