Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)
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DOI：
10.1097/md.0b013e3182060469
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发表时间：
2011-01-01
期刊：
影响因子：
1.6
通讯作者：
Sullivan, Kathleen E.
中科院分区：
文献类型：
--
作者：
McDonald-McGinn, Donna M.;Sullivan, Kathleen E.
染色体22q11.2缺失综合征是一种常见的综合征，也被称为DiGeorge综合征和腭心面综合征。其发生率约为1：4000，并且由于受影响的父母生育自己受影响的孩子，发病率正在增加。这种综合征的表现跨越所有医学专业，儿童和成人的护理可能很复杂。许多患者有轻度至中度的免疫缺陷，大多数患者有心脏异常。其他特征包括肾异常、眼异常、甲状旁腺功能减退、骨骼缺陷和发育迟缓。每个孩子的需要必须根据他或她的具体医疗问题来调整，随着孩子过渡到成年，会出现更多的问题。一个整体的方法，解决医疗和行为的需要，可以是非常有帮助的。
Chromosome 22q11.2 deletion syndrome is a common syndrome also known as DiGeorge syndrome and velocardiofacial syndrome. It occurs in approximately 1:4000 births, and the incidence is increasing due to affected parents bearing their own affected children. The manifestations of this syndrome cross all medical specialties, and care of the children and adults can be complex. Many patients have a mild to moderate immune deficiency, and the majority of patients have a cardiac anomaly. Additional features include renal anomalies, eye anomalies, hypoparathyroidism, skeletal defects, and developmental delay. Each child's needs must be tailored to his or her specific medical problems, and as the child transitions to adulthood, additional issues will arise. A holistic approach, addressing medical and behavioral needs, can be very helpful.