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rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0015295,
umls-concept:C0015965,
umls-concept:C0017337,
umls-concept:C0026578,
umls-concept:C0032043,
umls-concept:C0033053,
umls-concept:C0079259,
umls-concept:C0443281,
umls-concept:C0678226,
umls-concept:C0678804,
umls-concept:C1414083,
umls-concept:C1442161,
umls-concept:C2607943,
umls-concept:C2926606
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|
pubmed:issue |
1
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|
pubmed:dateCreated |
1999-4-29
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|
pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0197-3851
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
19
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
64-7
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:10073911-Abortion, Induced,
pubmed-meshheading:10073911-Adult,
pubmed-meshheading:10073911-Chorionic Villi,
pubmed-meshheading:10073911-Dystrophin,
pubmed-meshheading:10073911-Exons,
pubmed-meshheading:10073911-Female,
pubmed-meshheading:10073911-Humans,
pubmed-meshheading:10073911-Male,
pubmed-meshheading:10073911-Microsatellite Repeats,
pubmed-meshheading:10073911-Minisatellite Repeats,
pubmed-meshheading:10073911-Mosaicism,
pubmed-meshheading:10073911-Muscular Dystrophies,
pubmed-meshheading:10073911-Placenta,
pubmed-meshheading:10073911-Polymerase Chain Reaction,
pubmed-meshheading:10073911-Pregnancy,
pubmed-meshheading:10073911-Prenatal Diagnosis,
pubmed-meshheading:10073911-Sequence Deletion,
pubmed-meshheading:10073911-X Chromosome
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pubmed:year |
1999
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pubmed:articleTitle |
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.
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pubmed:affiliation |
Institut für Humangenetik, Universität Leipzig, Germany.
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pubmed:publicationType |
Journal Article,
Case Reports
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