title: Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis.
abstract: We describe three cases in which we used fluorescence in situ hybridization (FISH), polymerase chain reaction (PCR) and comparative genomic hybridization (CGH) to characterize Y chromosome structural anomalies, unidentifiable by conventional G-banding. Case 1 was a 46,X,+mar karyotype; FISH analysis revealed an entire marker chromosome highlighted after hybridization with the Y chromosome painting probe. The PCR study showed the presence of Y chromosome markers AMG and SY620 and the absence of SY143, SY254 and SY147. CGH results confirmed the loss of Yq11.2-qter. These results indicated the presence of a deletion: del(Y)(q11.2). Case 2 was a 45,X [14]/46,XY[86] karyotype with a very small Y chromosome. The PCR study showed the presence of Y chromosome markers SY620 and AMG, and the absence of SY143, SY254 and SY147. CGH results showed gain of Yq11.2-pter and loss of Yq11.2-q12. These results show the presence of a Yp isodicentric: idic(Y)(q11.2). Case 3 was a 45,X,inv(9)(p11q12)[30]/46,X,idic(Y)(p11.3?),inv(9)(p11q12)[70] karyotype. The FISH signal covered all the abnormal Y chromosome using a Y chromosome paint. The PCR study showed the presence of Y chromosome markers AMG, SY620, SY143, SY254 and SY147. CGH only showed gain of Yq11.2-qter. These results support the presence of an unbalanced (Y;Y) translocation. Our results show that the combined use of molecular and classical cytogenetic methods in clinical diagnosis may allow a better delineation of the chromosome regions implicated in specific clinical disorders.
authors.affiliation: Unitat de Biologia, Facultat de Medicina, Universitat Autònoma de Barcelona, E-08193 Bellaterra, Barcelona, Spain.
authors.forename: C
authors.initials: C
authors.lastname: Hernando
authors.forename: M
authors.initials: M
authors.lastname: Carrera
authors.forename: I
authors.initials: I
authors.lastname: Ribas
authors.forename: N
authors.initials: N
authors.lastname: Parear
authors.forename: R
authors.initials: R
authors.lastname: Baraibar
authors.forename: J
authors.initials: J
authors.lastname: Egocue
authors.forename: C
authors.initials: C
authors.lastname: Fuster
mesh_terms: D000293:Adolescent; D000328:Adult; D000649:Amniocentesis; D002871:Chromosome Banding; D041322:Chromosomes, Human, Y / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005260:Female; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D012729:Sex Chromosome Aberrations / Q000196:embryology*
chemical_list: D005819:Genetic Markers; D004247:DNA