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Pitfalls in prenatal diagnosis of DMD due to placental mosaicism of the X-chromosomes: prenatal and postnatal findings in a fetus with a deletion of exons 67-71 of the dystrophin gene.

作者信息

Vondran S, Edelmann J, Holland H, Wolf C, Strenge S, Thamm B, Thiele H, Froster U G

机构信息

Institut für Humangenetik, Universität Leipzig, Germany.

出版信息

Prenat Diagn. 1999 Jan;19(1):64-7. doi: 10.1002/(sici)1097-0223(199901)19:1<64::aid-pd464>3.0.co;2-z.

DOI:10.1002/(sici)1097-0223(199901)19:1<64::aid-pd464>3.0.co;2-z
PMID:10073911
Abstract

Prenatal diagnosis of Duchenne and Becker muscular dystrophy (DMD) is performed as a routine procedure in many laboratories. The major potential problem is an incorrect diagnosis that could be obtained due to contamination with maternal tissue. We report a case of mosaicism of the X-chromosomes confined to the placenta as a possible source of confusing results in prenatal diagnosis of DMD. To the best of our knowledge, this is the first reported case of this problem in a prenatal DMD diagnosis.

摘要

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