Abstract
Background
Subtelomeric deletion 1p is difficult to detect from banded karyotypes. Recent developments in the field of molecular cytogenetics have made it possible for submicroscopic rearrangements within chromosomes to be detected using fluorescence in situ hybridization (FISH) techniques.
Materials and methods
We describe prenatal FISH testing of subtelomeric 1p deletion in a fetus of a mother whose previous child had subtelomeric 1p deletion.
Results
Fluorescent in situ hybridization from fetal cells demonstrated normal 1p, thus predicting a very high likelihood of an unaffected fetus. The study was confirmed by the birth of a normal neonate.
Conclusions
We report the use of molecular genetic testing to exclude subtelomeric 1p deletion prenatally. Prenatal diagnostic testing for a known deletion is a reasonable option for couples at risk for having a child with subtelomeric 1p deletion. Molecular testing is more accurate and reliable than ultrasonography and provides families with reassurance.
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Acknowledgments
This study was supported by the Research Unit Grant from Chulalongkorn University. V. Praphanphoj and VS are supported by the National Center for Genetic Engineering and Biotechnology, and the Thailand Research Fund. We would like to thank Prof. David H. Ledbetter of Emory University School of Medicine, Atlanta, for his kind gift of BAC/PAC clones used in developing the subtelomeric FISH probe set.
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Phupong, V., Praphanphoj, V. & Shotelersuk, V. Prenatal exclusion of subtelomeric deletion 1p by fluorescent in situ hybridization. Arch Gynecol Obstet 275, 237–240 (2007). https://doi.org/10.1007/s00404-006-0246-8
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DOI: https://doi.org/10.1007/s00404-006-0246-8