منابع مشابه
Noninvasive prenatal diagnosis of duchenne muscular dystrophy: comprehensive genetic diagnosis in carrier, proband, and fetus.
BACKGROUND Noninvasive prenatal diagnosis of monogenic disorders using maternal plasma and targeted massively parallel sequencing is being investigated actively. We previously demonstrated that comprehensive genetic diagnosis of a Duchenne muscular dystrophy (DMD) patient is feasible using a single targeted sequencing platform. Here we demonstrate the applicability of this approach to carrier d...
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in current study, 63 samples of bat populations collected from differ regions were used for evaluating the geographic variations. twenty cranial and dental characters for traditional morphometric and landmarks method on the ventral, dorsal skull and mandible for geometry morphometric studies were used. statistical analyses of traditional morphometric and geometry morphometric data indicated low...
Genetic diagnosis of one pregnant woman with severe mental retardation and prenatal diagnosis of her fetus
This study aims to investigate the genetic mechanisms of one pregnant woman with severe mental retardation, hypoevolutism, and adverse history of pregnancy and delivery, and to perform the prenatal diagnosis towards the fetus, aiming to provide guidance for her future fertility. High-resolution chromosome assay (HRCA), fluorescence in situ hybridization (FISH), and whole genome DNA microarray (...
متن کاملIntracranial fetus-in-fetu: CT diagnosis.
The authors present a case of fetus-in-fetu in which the CT findings are compatible with an earlier description by Nocera et al., i.e., a "round or tubular collection of very low density fat surrounding a central bony structure (probably one of the legs)." Additionally, sonography showed a heterogeneous mass with limb-like structures in the left lateral ventricle. Plain films can confirm the pr...
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ژورنال
عنوان ژورنال: Journal of Perinatology
سال: 2020
ISSN: 0743-8346,1476-5543
DOI: 10.1038/s41372-020-0627-z