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KMID : 0387820120190010040
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Clinical Pediatric Hematology-Oncology
2012 Volume.19 No. 1 p.40 ~ p.43
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Monosomy 22 Mosaicism Associated Thrombocytopenia Presenting as Behcet’s Disease
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Kim Ji-Yoon
Lee Ki-Hyeong
Lee Sang-Cheol
Lee Ji-Yeoun
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Abstract
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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.
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KEYWORD
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Monosomy 22 mosaicism, 22q11 deletion syndrome, Thrombocytopenia
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