加拿大华人论坛 加拿大生活信息非常着急问史-李-欧综合症(SLOS)Smith-Lemli-Opitz
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怀孕19周了,之前做了唐氏儿筛查,结果各项指标中,有一项关于史-李-欧综合症的指标不合格,医生建议去BC women进一步检查,非常担心,医生说这种遗传基因问题在亚洲人很少见.请问姐妹们,你们有没有听说过类似的事情啊?
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回复: 非常着急问史-李-欧综合症(SLOS)Smith-Lemli-Opitz没有听说过,希望有了解的同胞来回答.祝好孕!
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回复: 非常着急问史-李-欧综合症(SLOS)Smith-Lemli-OpitzSLOS is a metabolic disorder caused by a mutation in the DHCR7 (7-dehydrocholesterol reductase) gene on chromosome 11. This gene codes for an enzyme that is involved in the production of cholesterol. People who have SLOS are unable to make enough cholesterol to support normal growth and development. Cholesterol is an essential component of the cell membrane and tissues of the brain. A person who can't make enough cholesterol will therefore experience poor growth, developmental delays, and mental retardation. People with this disorder may also have a range of physical malformations (such as extra fingers or toes) and problems with internal organs (such as the heart or kidney). 不过你不用过分担心，进一步筛查是有必要的，这个很少见的，你们夫妇都是carrier，孩子才有机会发病，所以机会小的很。
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