Izquierdo N J, Maumenee I H, Traboulsi E I
Johns Hopkins Center for Hereditary Eye Diseases, Wilmer Ophthalmological Institute, Johns Hopkins Medical Institutions, Baltimore, MD.
Ophthalmic Paediatr Genet. 1993 Jun;14(2):91-4. doi: 10.3109/13816819309042909.
The authors examined two patients with deletions of the terminal end of the long arm of chromosome 18. The ocular findings in one patient with 46, XX, del 18 (q21) consisted of hypertelorism, epicanthus, strabismus, myopia, microphthalmia, microcornea, corneal opacities, iris hypoplasia with full thickness defects, corectopia and large peripapillary staphylomata. The second patient with 46, XX, del (18) (pter --> q21.2 :: q22 --> qter), inv (21) (q21 --> p12 :: q21 --> qter) only had epicanthus, strabismus, myopia and peripapillary crescents. Based on the findings in these two patients and on a review of previously reported patients with del 18 qter it appears that the loss of band 18q23 may be responsible for malformations of the anterior segment in the 18q-syndrome.
作者检查了两名18号染色体长臂末端缺失的患者。一名核型为46, XX, del 18 (q21) 的患者的眼部表现包括眼距过宽、内眦赘皮、斜视、近视、小眼症、小角膜、角膜混浊、虹膜发育不全伴全层缺损、虹膜异位和大的视乳头周围葡萄肿。第二名核型为46, XX, del (18) (pter --> q21.2 :: q22 --> qter), inv (21) (q21 --> p12 :: q21 --> qter) 的患者仅患有内眦赘皮、斜视、近视和视乳头周围弧形斑。基于这两名患者的检查结果以及对先前报道的18q末端缺失患者的回顾，似乎18q23带的缺失可能是18q综合征前段畸形的原因。
