A case of microphthalmos with cyst and partial trisomy 22 |
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| Authors: | Tatsuo Kodama Yuzo Shibuya Tomoichi Setogawa Yuki Hasegawa Seiji Yamaguchi Yoshiaki Hirayama |
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| Institution: | 1. Departments of 1Ophthalmology;2. Departments of Pediatrics, and;3. Departments of Surgery, Shimane Medical University, Shimane, Japan |
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| Abstract: | A 13-day-old girl was referred for evaluation of a right orbital mass. Ophthalmic examinations revealed microphthalmia with cyst in the right eye and microphthalmia in the left eye. She had low-set ears, auricular fistula, micrognathia, and muscular hypotonia. Chromosomal analysis using fluorescence in-situ hybridization (FISH) showed partial trisomy 22. To our knowledge, microphthalmos with cyst associated with partial trisomy 22 has not been described previously in the English literature. Repeated aspiration resulted in a decrease in size of the cyst. |
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| Keywords: | retinoblastoma chemotherapy metastases |
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