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单词 Craniofacial syndrome
释义

Craniofacial syndrome

中文百科

迪乔治症候群 DiGeorge syndrome

（重定向自Craniofacial syndrome）
22q11.2 deletion syndrome is inherited in an autosomal dominant pattern.
Result of FISH analysis using LSI probe (TUPLE 1) from DiGeorge/velocardiofacial syndrome critical region. TUPLE 1 (HIRA) probe was labeled in Spectrum Orange and Arylsulfatase A (ARSA) in Spectrum Green as control. Absence of the orange signal indicates deletion of the TUPLE 1 locus at 22q11.2.

迪乔治症候群（DiGeorge syndrome、22q11.2缺失综合征/22q11.2 deletion syndrome）是一种遗传病，其会导致鼻及鼻梁基部宽大、人中短、上唇薄、耳廓异常、颚裂、心脏容易出现多重异常，甲状腺或副甲状腺低下，造成低血钙。

其在全球的发生率约为1/4000至1/6000。

遗传方面，其遗传方式为第22对染色体突变，少部分来自父母的遗传。

英语百科

DiGeorge syndrome 迪乔治症候群

（重定向自Craniofacial syndrome）
22q11.2 deletion syndrome is inherited in an autosomal dominant pattern.
Result of FISH analysis using LSI probe (TUPLE 1) from DiGeorge/velocardiofacial syndrome critical region. TUPLE 1 (HIRA) probe was labeled in Spectrum Orange and Arylsulfatase A (ARSA) in Spectrum Green as control. Absence of the orange signal indicates deletion of the TUPLE 1 locus at 22q11.2.

DiGeorge syndrome is also known as 22q11.2 deletion syndrome, DiGeorge anomaly, velocardiofacial syndrome (VCFS), Shprintzen syndrome, conotruncal anomaly face syndrome (CTAF) or Takao syndrome, Sedlackova syndrome, Cayler cardiofacial syndrome, Strong syndrome, congenital thymic aplasia, and thymic hypoplasia. This syndrome is caused by the deletion of a small piece of chromosome 22. As such, it is recommended that the name "22q11.2 deletion syndrome (22q11.2DS)" be used.
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更新时间：2025/12/24 1:15:52