SUBMICROSCOPIC INTERSTITIAL DELETION OF THE X-CHROMOSOME EXPLAINS A COMPLEX GENETIC SYNDROME DOMINATED BY NORRIE DISEASE
SUBMICROSCOPIC INTERSTITIAL DELETION OF THE X-CHROMOSOME EXPLAINS A COMPLEX GENETIC SYNDROME DOMINATED BY NORRIE DISEASE
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DOI：
10.1159/000132282
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发表时间：
1986-01-01
期刊：
影响因子：
--
通讯作者：
ROPERS, HH
中科院分区：
文献类型：
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作者：
GAL, A;WIERINGA, B;ROPERS, HH
诺里病（ND）是一种X连锁隐性遗传疾病，其特征是先天性失明，随后出现眼球萎缩。我们已经研究了一个三代家庭，其中ND是一个复杂的X连锁综合征的一部分，严重的精神发育迟滞，性腺功能减退，生长障碍，并增加感染的易感性作为额外的功能。这种综合征显然是由于间质性缺失，如L1.28 DNA探针（DXS7位点，Xp11.3）未能检测到受影响男性和几个强制性杂合子的X染色体缺陷上的互补DNA序列所证明的。试图进一步确定这种缺失与其他DNA探针从近端短臂的X染色体或前中期染色体分析是不成功的。
Norrie disease (ND), an X-linked recessive disorder, is characterized by congenital blindness followed by bulbar atrophy. We have examined a three-generation family in which ND is part of a complex X-linked syndrome with severe mental retardation, hypogonadism, growth disturbances, and increased susceptibility to infections as additional features. This syndrome is apparently due to an interstitial deletion, as evidenced by the failure of the L1.28 DNA probe (DXS7 locus, Xp11.3) to detect complementary DNA sequence on the defective X chromosome of an affected male and of several obligatory heterozygotes. Attempts to further define this deletion with other DNA probes from the proximal short arm of the X chromosome or by prometaphase chromosome analysis were unsuccessful.