Article
Would mean platelet volume/platelet count ratio be used as a novel formula to predict 22q11.2 deletion syndrome?
Asian Pacific journal of allergy and immunology - 1 Jun 2016
Gokturk Bahar, Guner Sukru Nail, Kara Reyhan, Kirac Mine, Keles Sevgi, Artac Hasibe, Zamani Ayse Gul, Yildirim Mahmut Selman, Reisli Ismail
Abstract excerpt
BACKGROUND: The diagnosis of 22q11.2 deletion syndrome depends on a time-consuming and expensive method, fluorescence in situ hybridisation (FISH). OBJECTIVES: We aimed to determine new parameters which can aid for in the diagnosis of 22q11.2 deletion syndrome. METHODS: Twenty two patients with 22q11.2 or 10p13 deletion were evaluated retrospectively. RESULTS: Facial-dysmorphism and mental-motor retardation were...
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