✦ LIBER ✦

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

✍ Scribed by Sigrid Vondran; Jeanett Edelmann; Heidrun Holland; Claudia Wolf; Sibylle Strenge; Barbara Thamm; Hannelore Thiele; Ursula G. Froster

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 165 KB
Volume: 19
Category: Article
ISSN: 0197-3851
DOI: 10.1002/(sici)1097-0223(199901)19:1<64::aid-pd464>3.0.co;2-z

No coin nor oath required. For personal study only.

✦ Synopsis

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.