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  • Title: Prenatal identification of an isochromosome for the short arm of the Y i(Yp), by cytogenetic and molecular analyses.
    Author: Slim R, Soulié J, Hotmar J, Lecolier B, Bercau G, Bernheim A.
    Journal: Prenat Diagn; 1994 Jan; 14(1):23-8. PubMed ID: 8183834.
    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.
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