title: Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and molecular analyses.
abstract: A case of 45,X/46,X,+mar mosaicism was detected in a male fetus (27 weeks' gestation) referred for karyotype analysis following the observation of a short femur at the ultrasound scan. Analysis of 12 Y-chromosome loci by fluorescent in situ hybridization (FISH) and polymerase chain reaction (PCR) demonstrated that the marker chromosome is of Y origin and corresponds to an authentic isochromosome for the short arm of the Y chromosome, i(Yp). The breakpoint on this marker is in YQ11.1 close to the centromere. The present report illustrates the importance of FISH and PCR techniques as a complement to cytogenetic methods for accurate identification and characterization of chromosome rearrangements in prenatal diagnosis.
authors.affiliation: Laboratoire de Cytogénétique et Génétique Oncologiques (CNRS URA 1158), Institut Gustave Roussy, Villejuif, France.
authors.forename: R
authors.initials: R
authors.lastname: Slim
authors.forename: J
authors.initials: J
authors.lastname: Soulié
authors.forename: J
authors.initials: J
authors.lastname: Hotmar
authors.forename: B
authors.initials: B
authors.lastname: Lecolier
authors.forename: G
authors.initials: G
authors.lastname: Bercau
authors.forename: A
authors.initials: A
authors.lastname: Bernheim
mesh_terms: D000328:Adult; D005260:Female; D005865:Gestational Age; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012729:Sex Chromosome Aberrations / Q000175:diagnosis*; D014998:Y Chromosome