title: Investigation of three XX males by cytogenetic and DNA analyses. Suggestion of Y chromosome inversion polymorphism.
abstract: We report cytogenetic and DNA studies in three XX males. Two males seemed to have extra chromosomal material on the tip of one X chromosome. All three males were shown to have Y chromosome material as indicated by hybridization of Y-specific DNA probes to genomic DNA. One male was unusual in that as he showed the 15-kb fragment detected by pDP34 that is thought to map close to the Y centromere. It is suggested that this finding might point to an inversion on the Y chromosome.
authors.affiliation: John F. Kennedy Institute, Glostrup, Denmark.
authors.forename: K B
authors.initials: KB
authors.lastname: Nielsen
authors.forename: M
authors.initials: M
authors.lastname: Schwartz
authors.forename: H
authors.initials: H
authors.lastname: Sardemann
mesh_terms: D007446:Chromosome Inversion; D002874:Chromosome Mapping; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D011110:Polymorphism, Genetic; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D014960:X Chromosome; D014998:Y Chromosome