Lanzi G, Fazzi E, Veggiotti P, Pagliano E, Gariglio M, Bonaglia C, Landolfo S
Department of Child Neuropsychiatry, C. Mondino Foundation, Neurological Institute IRCCS, University of Pavia, Italy.
Brain Dev. 1996 May-Jun;18(3):216-9. doi: 10.1016/0387-7604(95)00144-1.
A new case of ring chromosome 9 in a 36-month-old child is presented. In addition to the pathognomonic features of this rare disorder (only 21 cases reported), our patient presents some peculiarities, such as corpus callosum hypoplasia and epileptic seizures (infantile periodic spasms). We also observed a reduced level of leukocyte interferon alpha whose synthesis is controlled by a gene on chromosome 9 and which could be responsible for the recurrent respiratory tract infections, typical and sometimes fatal in these patients.
本文报告了一例36个月大儿童的9号环状染色体新病例。除了这种罕见疾病（仅报告了21例）的特征性表现外，我们的患者还有一些特殊之处，如胼胝体发育不全和癫痫发作（婴儿期周期性痉挛）。我们还观察到白细胞干扰素α水平降低，其合成由9号染色体上的一个基因控制，这可能是这些患者反复出现呼吸道感染的原因，这种感染在这些患者中很典型，有时甚至是致命的。
