[Conventional and molecular cytogenetic analyses of a derivative X chromosome in amniocentesis]

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Apr;28(2):217-9. doi: 10.3760/cma.j.issn.1003-9406.2011.02.021.
[Article in Chinese]

Abstract

Objective: To analyze the aberrant der(X) chromosome using conventional and molecular cytogenetic approaches in a fetus of second trimester and to discuss its clinical effect.

Methods: Conventional cytogenetic procedures (GTG and CBG banding) were performed on cultured amniotic fluid cells. Three-color fluorescence in situ hybridization (FISH) consisting of X chromosome enumeration probes(CEPX), CEPY and Tel Xp/Yp was further performed to study the aberrant der(X) chromosome.

Results: Der(X) was a rare X/Y translocation. The final karyotypes of the fetus was designated as: 46,X,der(X)t(X;Y)(p22.3;q11.2). ish der(X)t(X;Y)(p22.3;q11.2)(X/Ypter-, DXZ1+, DYZ1+)mat.

Conclusion: The combination of FISH and conventional cytogenetic techniques is a powerful tool to determine derivative chromosome and to offer an accurate genetic counseling. Identification of Xp; Yq rearrangement can help estimate the risk of fetus abnormalities and give a more precise prognosis.

Publication types

  • Case Reports
  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amniocentesis / methods*
  • Amniotic Fluid / cytology
  • Chromosome Aberrations*
  • Chromosome Banding / methods
  • Chromosomes, Human, X*
  • Cytogenetic Analysis / methods*
  • Female
  • Fetus / abnormalities
  • Genetic Counseling / methods
  • Humans
  • In Situ Hybridization, Fluorescence / methods
  • Pregnancy
  • Pregnancy Trimester, Second