Prenatal diagnosis of a trisomy 7/trisomy 13 mosaicism
نویسندگان
چکیده
منابع مشابه
Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism.
INTRODUCTION Analysis of data from cases of trisomy mosaicism can provide insight for genetic counselling after prenatal diagnosis and for the elucidation of the pathogenesis of trisomy during pregnancy. METHODS Statistical analysis was carried out on data from 162 cases of pregnancies with prenatal diagnosis of trisomy 16 mosaicism. RESULTS The majority of cases resulted in live birth (66%...
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Massively parallel sequencing of DNA molecules in the plasma of pregnant women has been shown to allow accurate and noninvasive prenatal detection of fetal trisomy 21. However, whether the sequencing approach is as accurate for the noninvasive prenatal diagnosis of trisomy 13 and 18 is unclear due to the lack of data from a large sample set. We studied 392 pregnancies, among which 25 involved a...
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Complete Trisomy 13 or Patau’s Syndrome is a relatively common (1/10,000 births) and uniformly fatal chromosomal disorder. In 5% of cases not all cells are trisomic, some cells are euploid [1]. This aberration, known as Trisomy 13 Mosaicism, is not well described but may lead to a milder form of the disease. Descriptive case report and comprehensive literature search of MEDLINE database using P...
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Ectrodactyly or split hand and foot malformations (SHFMs) are rare malformations of the limbs, characterized by median clefts of the hands and feet, syndactyly, and aplasia and/or hypoplasia of the phalanges. They represent a clinically and genetically heterogeneous disorder, with both sporadic and familial cases. Most of the genomic rearrangements identified to date in some forms of SHFM are a...
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ژورنال
عنوان ژورنال: Molecular Cytogenetics
سال: 2012
ISSN: 1755-8166
DOI: 10.1186/1755-8166-5-8