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Norrie病(ND)是一种被认为与探针L1.28紧密连锁的X-连锁疾病。本文报道在提供的24个减数分裂相中第一例重组情况。根据ND与L1.28之间的连锁,在携带者或产前诊断中由减数分裂交换引起的错误率只有4%。 ND是一种罕见的XR疾病。全世界报道大约300例。受累男子在出生后或以后几周出现双目失明。眼睛的检查结果有:视网膜镰状折迭,白瞳症,出血性视网膜剥离,眼前房浅,虹膜后粘连和伸长的睫状突起。大约三分之一病人有某种程度听觉缺陷,
Norrie’s disease (ND) is an X-linked disease that is thought to be tightly linked to probe L1.28. This article reports the first case of recombination in the 24 meiosis phases provided. According to the linkage between ND and L1.28, the error rate caused by meiotic exchange in carrier or prenatal diagnosis is only 4%. ND is a rare type of XR disease. About 300 cases are reported in the world. The affected man shows blindness after birth or in the next few weeks. Eye examination results are: retinal sickle fold, white pupil disease, hemorrhagic retinal detachment, anterior chamber shallow, after the iris adhesions and elongation of the ciliary processes. About a third of patients have some degree of hearing impairment,