Clin Pediatr Hematol Oncol.  2012 Apr;19(1):40-43.

Monosomy 22 Mosaicism Associated Thrombocytopenia Presenting as Behcet's Disease

Affiliations
  • 1Department of Pediatrics, Keimyung University School of Medicine, Daegu, Korea. jiyoonsmail@yahoo.co.kr
  • 2Department of Internal Medicine, College of Medicine and Medical Research Institute, Chungbuk National University, Cheongju, Korea.
  • 3Department of Urology, College of Medicine and Medical Research Institute, Chungbuk National University, Cheongju, Korea.
  • 4Department of Dermatology, College of Medicine and Medical Research Institute, Chungbuk National University, Cheongju, Korea.

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.

Keyword

Monosomy 22 mosaicism; 22q11 deletion syndrome; Thrombocytopenia

MeSH Terms

22q11 Deletion Syndrome
Blood Platelets
Eye
Female
Humans
Lip
Monosomy
Mosaicism
Thrombocytopenia
Ulcer
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