title: Y-derived sequences detected in a 45,X male by in situ hybridization.
abstract: A two-month-old boy with normal genitalia and descended testes was referred for a suspected hematological disorder. Cytogenetic analysis showed a 45,X chromosome constitution. In situ hybridization with the Y-derived probe 50f (provided by Professor Marc Fellous) was performed utilizing metaphase chromosomes to determine whether Y material could be detected. A significant amount of label (17 of 150 cells) was found on chromosome 5p suggesting a 5;Y translocation. This translocation was verified by high-resolution G-banded and G-11-stained chromosomes.
authors.affiliation: Department of Medical Genetics, Oregon Health Sciences University, Portland 97201.
authors.forename: R R
authors.initials: RR
authors.lastname: Sheehy
authors.forename: M G
authors.initials: MG
authors.lastname: Brown
authors.forename: R J
authors.initials: RJ
authors.lastname: Warren
authors.forename: M
authors.initials: M
authors.lastname: Schwartzman
authors.forename: R E
authors.initials: RE
authors.lastname: Magenis
mesh_terms: D002675:Child, Preschool; D002895:Chromosomes, Human, Pair 5 / Q000648:ultrastructure*; D003410:Cri-du-Chat Syndrome / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D008297:Male; D014178:Translocation, Genetic; D014998:Y Chromosome / Q000648:ultrastructure*
chemical_list: D005819:Genetic Markers