Prenatal Diagnosis of a (X;X) Translocation by Fluorescence in situ Hybridization and Laser Scanning Image Cytometry
作者:
Gerard Tachdjian,
Valère Cacheux,
Hélène Kiefer,
Luc Druart,
Jean-Michel Lapierre,
Jean-François Oury,
Philippe Blot,
Philippe Metezeau,
期刊:
Fetal Diagnosis and Therapy
(Karger Available online 1995)
卷期:
Volume 10,
issue 6
页码: 387-392
ISSN:1015-3837
年代: 1995
DOI:10.1159/000264263
出版商: S. Karger AG
关键词: Cytometry;Fluorescence in situ hybridization (FISH);Isochromosome;Translocation;prenatal diagnosis;X chromosome
数据来源: Karger
摘要:
A de novo structural abnormality of one X chromosome was prenatally detected in a female fetus. This chromosomal abnormality has been analyzed by conventional cytogenetic methods, fluorescence in situ hybridization, and laser scanning image cytometry. The association of these techniques has demonstrated that this anomaly corresponds to a (X;X) translocation. Analysis of hybridization signals by laser scanning image cytometry allowed to localize that the breakpoints were at the X-centromeric region and Xp11.3, respectively. These results show the usefulness of image analysis and fluorescence in situ hybridization for a rapid characterization of de novo structural chromosome anomalies in prenatal diagnosis.
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