Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?

Here we describe a case of a prenatal diagnosis of a male fetus that inherited the unstable allele from his full mutation mosaic mother (29, 160, >200 CGG repeats) reduced to a normal size range (19 CGG repeats). Haplotype analysis showed that the fetus 19 CGG repeats allele derived from the mate...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Front Genet
मुख्य लेखकों: Manor, Esther, Jabareen, Azhar, Magal, Nurit, Kofman, Arei, Hagerman, Randi J., Tassone, Flora
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Frontiers Media S.A. 2017
विषय:
Genetics
ऑनलाइन पहुंच:https://ncbi.nlm.nih.gov/pmc/articles/PMC5675867/
https://ncbi.nlm.nih.gov/pubmed/29163631
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2017.00158
टैग : टैग जोड़ें
कोई टैग नहीं, इस रिकॉर्ड को टैग करने वाले पहले व्यक्ति बनें!

समान संसाधन