Microphthalmia and chorioretinal lesions in a girl with an Xp22.2-pter deletion and partial 3p trisomy: clinical observations relevant to Aicardi syndrome gene localization.

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.