一例伴有囊肿和22号染色体部分三体的小眼球症。
A case of microphthalmos with cyst and partial trisomy 22.
作者信息
Kodama T, Shibuya Y, Setogawa T, Hasegawa Y, Yamaguchi S, Hirayama Y
机构信息
Department of Ophthalmology, Shimane Medical University, Japan.
出版信息
Ophthalmic Genet. 1998 Jun;19(2):93-7. doi: 10.1076/opge.19.2.93.2319.
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 lowset 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.
一名13天大的女婴因右眼眶肿物前来接受评估。眼科检查发现右眼小眼球伴囊肿，左眼小眼球。她有低位耳、耳前瘘管、小颌畸形和肌张力减退。使用荧光原位杂交（FISH）进行的染色体分析显示22号染色体部分三体。据我们所知，英文文献中此前尚未描述过与22号染色体部分三体相关的伴有囊肿的小眼球。反复抽吸导致囊肿大小减小。
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