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DNA confirmation of congenital myotonic dystrophy in non‐immune hydrops fetalis
Author(s) -
Stratton Robert F.,
Patterson Robert M.
Publication year - 1993
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1970131104
Subject(s) - hydrops fetalis , myotonic dystrophy , prenatal diagnosis , medicine , myotonia , fetus , population , genetics , biology , pregnancy , environmental health
We report on the prenatal diagnosis of congenital myotonic dystrophy in a case of nonimmune 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.