MONGOLISM (DOWN'S SYNDROME) AND KERATOCONUS.
MONGOLISM (DOWN'S SYNDROME) AND KERATOCONUS.
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DOI：
10.1136/bjo.47.6.321
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发表时间：
1963-06-01
期刊：
影响因子：
--
通讯作者：
BUTLER, H G
中科院分区：
文献类型：
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作者：
CULLEN, J F;BUTLER, H G
兰登·唐恩（Langdon Down， 1866年）首次将蒙古蒙古症描述为一种临床症状，并将其与cretinism区分开来。在过去的几年里，由于发现患有这种异常的患者的细胞中含有异常数量的染色体，人们对这种疾病的兴趣又恢复了。同时，圆锥角膜被一些欧洲作者描述为该疾病的常见眼部表现之一，也有人认为急性圆锥角膜在这些患者中并非罕见的并发症。直到1956年，人们一直认为人类细胞包含24对染色体，这些染色体来自父母双方。然而，在那一年，Tjio和Levan（1956）表明，我们的细胞只有46条染色体或23对，包括一对性染色体（X和Y染色体）和22对体细胞染色体或常染色体。他们的发现很快得到了其他工作者的证实，现在已被普遍接受。在人类中，染色体数目异常是由于第一次减数分裂时一对染色体中的一条未分离而产生的。雅各布斯和斯特朗（1959）报道了这种涉及性染色体的事件，现在已被证明会引起不同的临床综合征，如性腺发育不良或特纳综合征，其中总染色体数为45 (XO)，也会导致Klinefelter综合征（XXY）和Triple X或超级女性综合征（XXX），这两种综合征都发现了47条染色体。在这些情况下，主要的异常在于生殖系统，尽管其中一些患者也有智力迟钝。
MONGOLISM was first described as a clinical entity and differentiated from cretinism by Langdon Down (1866). During the past few years there has been a revival of interest in the condition because of the discovery that the cells of patients with this anomaly contain an abnormal number of chromosomes. At the same time, keratoconus has been described by some European authors as one of the commoner ocular manifestations of the disease, and it has also been suggested that acute keratoconus is a not un-usual complication in these patients.Until 1956 it had always been believed that human cells contained 24 pairs of chromosomes derived equally from each parent. In that year, however, Tjio and Levan (1956) showed that our cells have only 46 chromosomes or 23 pairs, comprising one pair of sex chromosomes (the X and Y chromosomes) and 22 pairs of somatic chromosomes or autosomes. Their discovery was quickly confirmed by other workers and is now universally accepted. In man abnormal chromosome numbers arise by non-separation of one of a pair of chromosomes in the first meiotic division. Such an occurrence involving the sex chromosomes was reported by Jacobs and Strong (1959), and has now been shown to give rise to different clinical syndromes such as gonadal dysgenesis or Turner's syndrome, where the totalchromosome number is 45 (XO), and also to Klinefelter's syndrome (XXY) and the Triple X orsuperfemale syndrome (XXX), in both of which 47 chromosomes have been found. In these conditions the main abnormalities lie in the reproductive systems, although some of these patients are also mentally retarded.