Article
Buccal cell FISH and blood PCR-Y detect high rates of X chromosomal mosaicism and Y chromosomal derivatives in patients with Turner syndrome.
European journal of medical genetics - 1 Sept 2013
Freriks Kim, Timmers Henri J L M, Netea-Maier Romana T, Beerendonk Catharina C M, Otten Barto J, van Alfen-van der Velden Janiëlle A E M, Traas Maaike A F, Mieloo Hanneke, van de Zande Guillaume W H J F L, Hoefsloot Lies H, Hermus Ad R M M, Smeets Dominique F C M
Abstract excerpt
Turner syndrome (TS) is the result of (partial) X chromosome monosomy. In general, the diagnosis is based on karyotyping of 30 blood lymphocytes. This technique, however, does not rule out tissue mosaicism or low grade mosaicism in the blood. Because of the associated risk of gonadoblastoma, mosaicism is especially important in case this involves a Y chromosome. We investigated different approaches to improve the...
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