Donnenfeld A E, Graham J M, Packer R J, Aquino R, Berg S Z, Emanuel B S
Divisions of Clinical Genetics, Children's Hospital of Philadelphia, Pennsylvania.
Am J Med Genet. 1990 Oct;37(2):182-6. doi: 10.1002/ajmg.1320370205.
We present a 4-year-old girl with a maternally derived, unbalanced X;3 translocation resulting in partial Xp monosomy and partial 3p trisomy. She had chorioretinal defects, developmental delay, infantile seizures, and microphthalmia. These findings initially suggested a diagnosis of Aicardi syndrome. However, she had a normal-appearing corpus callosum on CT and magnetic resonance imaging scans of the brain and her retinal findings were not typical for Aicardi syndrome. This represents the 6th reported example of microphthalmia associated with an Xp22 chromosome abnormality. Four of these individuals also had features suggestive of focal dermal hypoplasia (FDH), which was not evident in our patient. The available evidence supports the hypothesis that gene disruption at Xp22 may lead to findings similar to those seen in Aicardi syndrome and FDH, both of which are believed to be X-linked dominant male lethal conditions.
我们报告了一名4岁女孩，其患有源自母亲的不平衡X;3易位，导致部分Xp单体和部分3p三体。她有脉络膜视网膜缺损、发育迟缓、婴儿期癫痫发作和小眼症。这些发现最初提示诊断为艾卡迪综合征。然而，她脑部的CT和磁共振成像扫描显示胼胝体外观正常，且她的视网膜表现并非艾卡迪综合征的典型表现。这是第6例报道的与Xp22染色体异常相关的小眼症病例。其中4例个体还具有提示局灶性皮肤发育不全（FDH）的特征，而在我们的患者中并不明显。现有证据支持这样的假说，即Xp22处的基因破坏可能导致与艾卡迪综合征和FDH中所见相似的表现，这两种疾病均被认为是X连锁显性男性致死性疾病。
