Detection of X chromosome aneuploidy using Southern blot analysis during routine population-based screening for
Vardit Adir1, Elena Shahak, Hanna Dar
1The Simon Winter Institute for Human Genetics, Bnai-Zion Medical Center, Technion-Rappaport Faculty of Medicine, Haifa 31048, Israel.
Genetic Testing
|March 6, 2004
Abstract:
We report herein two cases where detection of X chromosome aneuploidy (cytogenetically proved 45,X/46XX and 47,XXX) was made possible by molecular diagnosis during population-based carrier screening for Fragile X syndrome, using Southern blot analysis. This study emphasizes the value of molecular analysis for gene dosage to suggest chromosomal aneuploidy.
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