对一名患有1;13染色体易位和莫比乌斯综合征且伴有冲动控制障碍、露阴癖和攻击行为的患者进行的20年行为随访。

Twenty-year behavioral follow-up of a 1;13 chromosomal translocation and Mobius syndrome presenting with poor impulse control, exhibitionism, and aggression.

作者信息

Hedges Dawson W, Jeppson Kreg G, Burns Cassandra

机构信息

Department of Psychology and the Neuroscience Center, Brigham Young University, Provo, UT 84602, USA.

出版信息

Compr Psychiatry. 2003 Nov-Dec;44(6):462-5. doi: 10.1016/S0010-440X(03)00144-5.

DOI:10.1016/S0010-440X(03)00144-5

PMID:14610724

Abstract

Mobius syndrome is a rare disorder characterized by agenesis or aplasia of the facial or abducens nerve motor nuclei and other features including central nervous system and behavioral abnormalities. We report an adult case of Mobius syndrome variant presenting with poor impulse control, aggression, and exhibitionism. Karyotyping revealed a 46 XY, t(1;13)(p34.3;q12.3) translocation. The subject had been presented 20 years previously as the index case of a three-generation pedigree.

摘要

莫比乌斯综合征是一种罕见的疾病，其特征为面神经或展神经运动核发育不全或发育异常，以及包括中枢神经系统和行为异常在内的其他特征。我们报告一例成年莫比乌斯综合征变异型病例，表现为冲动控制障碍、攻击行为和暴露癖。核型分析显示为46，XY，t(1;13)(p34.3;q12.3)易位。该患者20年前作为一个三代家系的先证者被报道过。