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Updated: Aug 9, 2026

Microsatellite DNA Genotyping and Flow Cytometry Ploidy Analyses of Formalin-fixed Paraffin-embedded Hydatidiform Molar Tissues
Published on: October 20, 2019
DNA confirmation of congenital myotonic dystrophy in non-immune hydrops fetalis
1South Texas Genetics Center, San Antonio 78229.
Abstract:
We report on the prenatal diagnosis of congenital myotonic dystrophy in a case of non-immune hydrops fetalis. DNA analysis of amniocytes revealed expansion of the trinucleotide (CTG) repeat within the myotonin PK gene, associated with myotonic dystrophy. The fetus was found to have approximately 1730 copies, while the normal population has between 5 and 27 copies, and minimally affected individuals have at least 50 copies.
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