A BALANCED DE NOVO X/AUTOSOME TRANSLOCATION IN A GIRL WITH MANIFESTATIONS OF LOWE SYNDROME
A BALANCED DE NOVO X/AUTOSOME TRANSLOCATION IN A GIRL WITH MANIFESTATIONS OF LOWE SYNDROME
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DOI：
10.1002/ajmg.1320230311
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发表时间：
1986-03-01
期刊：
影响因子：
--
通讯作者：
BOBROW, M
中科院分区：
文献类型：
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作者：
HODGSON, SV;HECKMATT, JZ;BOBROW, M
Lowe眼脑肾综合征是一种X连锁隐性遗传病，其特征为智力和生长迟缓、肾佝偻病伴肾小管性酸中毒、全身性氨基酸尿症、肌张力低下、白内障、青光眼和额叶突出。这种综合征的表现见于一名没有该疾病家族史的女孩，但发现她患有从头平衡 X/3 易位，断点位于 Xq25。她还从父亲那里继承了平衡的 14/17 易位。据推测，临床表现可能是 Lowe 综合征基因座基因内 X 染色体破坏的结果，正常 X 染色体非随机失活，这可能导致女孩表达这种 X 连锁隐性遗传病。
The Oculo-cerebro-renal syndrome of Lowe is an X-linked recessive disorder characterized by mental and growth retardation, renal rickets with renal tubular acidosis, generalized aminoaciduria, hypotonia, cataracts, glaucoma and frontal bossing. Manifestations of this syndrome were seen in a girl with no family history of the disorder, but who was found to have a de novo balanced X/3 translocation, with a breakpoint at Xq25. She had also inherited a balanced 14/17 translocation from her father. It is postulated that the clinical picture may be the result of disruption of the X chromosome within the gene at the locus for Lowe syndrome, with non-random inactivation of the normal X, which may permit the expression of this X-linked recessive disorder in a girl.