Katafuchi Y, Hashino K, Maeno Y, Komori H, Yamashita Y, Horikawa M, Abe K, Niikawa N, Kato H
Department of Pediatrics, Kurume University School of Medicine, Japan.
Acta Paediatr Jpn. 1990 Oct;32(5):566-70. doi: 10.1111/j.1442-200x.1990.tb00883.x.
Partial trisomy 22 usually occurs through a 3:1 meiotic segregation of the parental 11q;22q translocation carrier, which is the most common balanced translocation in man. Common neurologic findings are delayed psychomotor development and muscular hypotonia. There have been a few neuroradiologic and neuropathologic studies, which include ventricular dilatation, arrhinencephaly, and aplasia or hypoplasia of the cerebellar vermis, corpus callosum and pons. We here add one patient with partial trisomy 22 who had, in addition to the usual features, Dandy-Walker malformation, which, to our knowledge, is a previously undescribed feature.
22号染色体部分三体通常是由于亲代11q;22q易位携带者在减数分裂时发生3:1分离所致，这是人类最常见的平衡易位。常见的神经学表现为精神运动发育迟缓及肌张力减退。已有一些神经放射学和神经病理学研究，包括脑室扩张、无脑回、小脑蚓部、胼胝体和脑桥发育不全或发育不良。我们在此报告1例22号染色体部分三体患者，除具有常见特征外，还伴有Dandy-Walker畸形，据我们所知，这是一种此前未被描述过的特征。
