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Updated: Jun 3, 2026

Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
[Conventional and molecular cytogenetic analyses of a derivative X chromosome in amniocentesis]
Yu-qin LUO1, Yu-li QIAN, Yan ZHANG
1Department of Clinical Laboratory, Women's Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310006 P.R. China.
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.
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