Monosomy 22 Mosaicism Associated Thrombocytopenia Presenting as Behcet's Disease / 임상소아혈액종양

ABSTRACT

We describe an 18 year old female with monosomy 22 mosaicism and thrombocytopenia. She had some unique facial appearance such as small eyes and thin lip, similar to those with 22q11 deletion syndrome and thrombocytopenia with slightly increased mean platelet volume and recurrent orogenital ulcers presented as Behcet's disease. There are very few published case reports and a great variability of phenotypic presentations among the anomalies of the patients with monosomy 22 mosaicism. We report this case with a brief review of the literature suggesting that thrombocytopenia can be a new component manifestation of monosomy 22 mosaicism.