Monosomy 22 Mosaicism Associated Thrombocytopenia Presenting as Behcet's Disease / 임상소아혈액종양
Clinical Pediatric Hematology-Oncology
;
: 40-43, 2012.
Artigo
em Coreano
| WPRIM
| ID: wpr-77649
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Trombocitopenia
/
Úlcera
/
Plaquetas
/
Olho
/
Síndrome da Deleção 22q11
/
Lábio
/
Monossomia
/
Mosaicismo
Limite:
Feminino
/
Humanos
Idioma:
Coreano
Revista:
Clinical Pediatric Hematology-Oncology
Ano de publicação:
2012
Tipo de documento:
Artigo
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