Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and Molecular analyses |
| |
Authors: | Rima Slim Joelle Soulié Jan Hotmar Bertrand Lecolier Guy Bercau Alain Bernheim |
| |
Affiliation: | 1. Laboratoire de Cytogénétique et Génétique Oncologiques (CNRS URA 1158), Institut Gustave Roussy, 39 rue Camille Desmoulins, F-94805 Villejuif Cédex, France;2. Centre de Médecine Prénatale, Hǒpital Notre-Dame de Bon Secours, 6 rue Giordano Bruno, F-75674 Paris Cédex 14, France |
| |
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. |
| |
Keywords: | Prenatal diagnosis 45,X/46,X+mar mosaicism Yp isochromosome FISH |
|
|