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High risk of malignancy in mosaic variegated aneuploidy syndrome.
Jacquemont S, Bocéno M, Rival JM, Méchinaud F, David A. Jacquemont S, et al. Am J Med Genet. 2002 Apr 15;109(1):17-21; discussion 16. doi: 10.1002/ajmg.10281. Am J Med Genet. 2002. PMID: 11932988 Review.
We describe here a young boy in whom MVA syndrome is associated to myelodysplasia with a monosomy 7 bone marrow clone. At the age of 3 years, myelodysplasia progressed to an acute lymphoblastic leukemia, and the patient died soon after. ...MVA with hematological findings h …
We describe here a young boy in whom MVA syndrome is associated to myelodysplasia with a monosomy 7 bone marrow clone. At the age of 3 …
A case report of a fetus with mosaic autosomal variegated aneuploidies and literature review.
Cho CH, Oh MJ, Lim CS, Lee CK, Cho Y, Yoon SY. Cho CH, et al. Ann Clin Lab Sci. 2015 Winter;45(1):106-9. Ann Clin Lab Sci. 2015. PMID: 25696020 Review.
Ultrasonography at 21 weeks' gestation revealed relatively small head circumference for gestational age (<3%) and vermis defect, suggesting that the fetus would have microcephaly and Dandy-Walker malformation. ...
Ultrasonography at 21 weeks' gestation revealed relatively small head circumference for gestational age (<3%) and vermis defect, s …
Turner syndrome revisited: review of new data supports the hypothesis that all viable 45,X cases are cryptic mosaics with a rescue cell line, implying an origin by mitotic loss.
Hook EB, Warburton D. Hook EB, et al. Hum Genet. 2014 Apr;133(4):417-24. doi: 10.1007/s00439-014-1420-x. Epub 2014 Jan 30. Hum Genet. 2014. PMID: 24477775 Review.
Our primary conclusions are 1) all 45,X individuals with Turner syndrome are cryptic mosaics, 2) absence of the X chromosome in 45,X embryos is caused primarily by mitotic factors, and 3) the placenta is a strong candidate for the location of the rescue line in apparently …
Our primary conclusions are 1) all 45,X individuals with Turner syndrome are cryptic mosaics, 2) absence of the X chromosome in 45,X embryos …