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Diagnosis
editAutosomal dominant or X-linked familial disorders often prompt prenatal testing for germline mosaicism. This diagnosis may involve minimally invasive procedures, such as blood sampling or amniotic fluid sampling.[1]2,4,5,6,8 Collected samples can be sequenced via common DNA testing methods, such as Sanger Sequencing, MLPA, or Southern Plot analysis, to look for variations on relevant genes connected to the disorder.[2][3]11,12
- ^ Edwards, J. H. (1989). "Familiarity, recessivity and germline mosaicism". Annals of Human Genetics. 53 (1): 33–47. doi:10.1111/j.1469-1809.1989.tb01120.x. ISSN 1469-1809.
- ^ Sgambati, M. T.; Stolle, C.; Choyke, P. L.; Walther, M. M.; Zbar, B.; Linehan, W. M.; Glenn, G. M. (2000-01-01). "Mosaicism in von Hippel–Lindau Disease: Lessons from Kindreds with Germline Mutations Identified in Offspring with Mosaic Parents". The American Journal of Human Genetics. 66 (1): 84–91. doi:10.1086/302726. ISSN 0002-9297.
- ^ Wilkie, Andrew O. M.; Goriely, Anne (2017-9). "Gonadal mosaicism and non‐invasive prenatal diagnosis for 'reassurance' in sporadic paternal age effect (PAE) disorders". Prenatal Diagnosis. 37 (9): 946–948. doi:10.1002/pd.5108. ISSN 0197-3851. PMC 5638092. PMID 28686291.
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