Aloumanis Kyriakos P, Papapetrou Peter D
2nd Division of Endocrinology, Alexandra General Hospital, 11528, Athens, Greece.
J Clin Neurosci. 2007 Nov;14(11):1124-6. doi: 10.1016/j.jocn.2006.01.020.
A young man with primary hyperparathyroidism due to a parathyroid adenoma and aplasia of the corpus callosum is presented. We hypothesize a possible genetic association of the two pathologies: a proportion of the sporadic parathyroid adenomas are associated with genetic abnormalities of chromosome 11 and in some cases of corpus callosum aplasia, aneuploidy or polyploidy of this chromosome has been described.
本文报告了一名因甲状旁腺腺瘤和胼胝体发育不全导致原发性甲状旁腺功能亢进的年轻男性。我们推测这两种病理情况可能存在遗传关联:一部分散发性甲状旁腺腺瘤与11号染色体的基因异常有关,并且在某些胼胝体发育不全的病例中,已描述了该染色体的非整倍体或多倍体情况。