title: Relevance to prenatal diagnosis of the identification of a human Y/autosome translocation by Y-chromosome-specific in situ hybridisation.
abstract: Routine cytogenetic analysis of an amniotic fluid sample revealed a large brightly fluorescent region in the short arm of chromosome 14 in an otherwise normal male karyotype (46,XY,14p+ + +). This site was also present in the paternal karyotype. In situ hybridisation to a Y-chromosome-specific DNA probe confirmed that the father had a Y/14 translocation. The incidence of two hybridisation bodies (large hybridisation sites), detecting both the translocated Y chromatin and the normal Y chromosome, was lower in interphase nuclei (44.3%) than in metaphase spreads (95.2%). The relevance of these observations to the potential use of in situ hybridisation to interphase nuclei for prenatal diagnosis is discussed.
authors.affiliation: Department of Paediatric Pathology, Royal Hospital for Sick Children, Edinburgh, Scotland.
authors.forename: P M
authors.initials: PM
authors.lastname: Ellis
authors.forename: J D
authors.initials: JD
authors.lastname: West
authors.forename: K M
authors.initials: KM
authors.lastname: West
authors.forename: R S
authors.initials: RS
authors.lastname: Murray
authors.forename: M C
authors.initials: MC
authors.lastname: Coyle
mesh_terms: D000328:Adult; D000653:Amniotic Fluid / Q000032:analysis; D002467:Cell Nucleus / Q000648:ultrastructure; D002883:Chromosomes, Human, Pair 14; D015342:DNA Probes; D005260:Female; D006801:Humans; D007399:Interphase; D007621:Karyotyping; D008297:Male; D008677:Metaphase; D009693:Nucleic Acid Hybridization; D011247:Pregnancy; D011296:Prenatal Diagnosis; D014178:Translocation, Genetic; D014998:Y Chromosome / Q000648:ultrastructure*
chemical_list: D015342:DNA Probes