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Comment
. 2019 Aug;21(8):1882-1883.
doi: 10.1038/s41436-018-0411-z. Epub 2018 Dec 21.

45,X mosaicism in a population-based biobank: implications for Turner syndrome

Siddharth K Prakash  1 , Melissa L Crenshaw  2 , Philippe F Backeljauw  3   4 , Michael Silberbach  5 , Cindy Scurlock  6 , Denise D Culin  7 , Kelly C Ranallo  7 , Angela E Lin  8
Affiliations
Free article
Comment

45,X mosaicism in a population-based biobank: implications for Turner syndrome

Siddharth K Prakash et al. Genet Med. 2019 Aug.
Free article
No abstract available

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Comment in

  • Response to Prakash et al.
    Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, Collinson MN, Freathy RM, Weedon MN, Frayling TM, Murray A. Tuke MA, et al. Genet Med. 2019 Aug;21(8):1884-1885. doi: 10.1038/s41436-018-0412-y. Epub 2018 Dec 21. Genet Med. 2019. PMID: 30573795 No abstract available.

Comment on

  • Mosaic Turner syndrome shows reduced penetrance in an adult population study.
    Tuke MA, Ruth KS, Wood AR, Beaumont RN, Tyrrell J, Jones SE, Yaghootkar H, Turner CLS, Donohoe ME, Brooke AM, Collinson MN, Freathy RM, Weedon MN, Frayling TM, Murray A. Tuke MA, et al. Genet Med. 2019 Apr;21(4):877-886. doi: 10.1038/s41436-018-0271-6. Epub 2018 Sep 5. Genet Med. 2019. PMID: 30181606 Free PMC article.

References

    1. Gravholt CH, et al. Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting. Eur J Endocrinol. 2017;177:G1–G70. - DOI
    1. Tuke MA et al. Mosaic Turner syndrome shows reduced penetrance in an adult population study. Genet Med 2018 Sep 5; https://www.nature.com/articles/s41436-018-0271-6 [Epub ahead of print].
    1. Homer L, et al. 45,X/46,XX mosaicism below 30% of aneuploidy: clinical implications in adult women from a reproductive medicine unit. Eur J Endocrinol. 2010;162:617–623. - DOI
    1. Tokita MJ, Sybert VP. Postnatal outcomes of prenatally diagnosed 45,X/46,XX. Am J Med Genet A. 2016;170A:1196–1201. - DOI
    1. Hook EB, Warburton D. 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. Hum Genet. 2014;133:417–424. - DOI

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