Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis

C. Hernando, M. Carrera, I. Ribas, N. Parear, R. Baraibar, J. Egocue, C. Fuster

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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. Copyright © 2002 John Wiley & Sons, Ltd.
Original languageEnglish
Pages (from-to)802-805
JournalPrenatal Diagnosis
Volume22
DOIs
Publication statusPublished - 1 Sep 2002

Keywords

  • CGH
  • FISH
  • Isochromosomes
  • PCR
  • Prenatal diagnosis

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    Hernando, C., Carrera, M., Ribas, I., Parear, N., Baraibar, R., Egocue, J., & Fuster, C. (2002). Prenatal and postnatal characterization of Y chromosome structural anomalies by molecular cytogenetic analysis. Prenatal Diagnosis, 22, 802-805. https://doi.org/10.1002/pd.415