title: Identification of a non-fluorescent isodicentric Y chromosome by molecular cytogenetic techniques.
abstract: A 12 1/2-month-old girl was referred because of short stature, short neck, large internipple distance and simian crease on her right hand. By routine cytogenetic techniques the presence of an unidentifiable marker chromosome and loss of one X chromosome was noted (i.e. 45, X/46, X, mar/47, X, mar, +mar). By fluorescence in situ hybridization (FISH) technique, the marker chromosome was identified as an isodicentric non-fluorescent Y chromosome ((45, X/46, X, idic (Ynf)/47, X, idic (Ynf), +idic (Ynf)). Although the clinical significance of this finding cannot be assessed at present, possible development of gonadoblastoma in such cases is a major concern and warrants follow-up evaluations.
authors.affiliation: Long Island College Hospital, SUNY Health Science Center at Brooklyn.
authors.forename: M J
authors.initials: MJ
authors.lastname: Macera
authors.forename: J
authors.initials: J
authors.lastname: Sherman
authors.forename: H O
authors.initials: HO
authors.lastname: Shah
authors.forename: D L
authors.initials: DL
authors.lastname: Blumberg
authors.forename: L S
authors.initials: LS
authors.lastname: Buttice
authors.forename: J H
authors.initials: JH
authors.lastname: Lin
authors.forename: R S
authors.initials: RS
authors.lastname: Verma
mesh_terms: D002871:Chromosome Banding; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D014424:Turner Syndrome / Q000175:diagnosis / Q000235:genetics*; D014998:Y Chromosome / Q000235:genetics
chemical_list: D005819:Genetic Markers