一名具有非嵌合等臂双中心（X）（q21.32）染色体患者的神经精神障碍

Neuropsychiatric disturbances in a patient with a nonmosaic isodicentric (X) (q21.32) chromosome.

作者信息

Suzuki T, Koizumi J, Arinami T, Shiraishi H, Ofuku K, Kawai N, Baba A, Ninomiya H

机构信息

Department of Psychiatry, University of Tsukuba, Japan.

出版信息

Jpn J Psychiatry Neurol. 1990 Sep;44(3):563-70. doi: 10.1111/j.1440-1819.1990.tb01630.x.

DOI:10.1111/j.1440-1819.1990.tb01630.x

PMID:2127433

Abstract

A 41-year-old female patient with mental retardation and generalized epileptic seizure had a nonmosaic idic (X) (pter-q21.32::q21.32-pter) chromosome in peripheral lymphocytes and bone marrow cells. Primary amenorrhea, myelodysplastic syndrome, pigmented nevi and characteristic facial appearance were also observed. A few cases with the nonmosaic idic (X) (q::q) with various breakpoints reported previously commonly showed ovarian failure with dysfunction of relevant hormone. CNS abnormalities of the present case were demonstrated by CT, MRI and SPECT using 123I-IMP. CNS abnormalities were considered to be possibly due to karyotype with a nonmosaic idic (X) (q21.32).

摘要

一名41岁患有智力发育迟缓及全身性癫痫发作的女性患者，其外周血淋巴细胞和骨髓细胞中存在一条非嵌合的等臂双着丝粒X染色体（idic(X)(pter-q21.32::q21.32-pter)）。还观察到原发性闭经、骨髓增生异常综合征、色素痣及特征性面容。先前报道的少数具有不同断点的非嵌合等臂双着丝粒X染色体（idic(X)(q::q)）病例通常表现为卵巢功能衰竭及相关激素功能障碍。本病例的中枢神经系统异常通过CT、MRI及使用123I-IMP的SPECT得以证实。中枢神经系统异常被认为可能归因于具有非嵌合等臂双着丝粒X染色体（q21.32）的核型。