一名早发性痴呆患者21三体镶嵌现象：病例报告及文献简要综述
Mosaicism for trisomy 21 in a patient with young-onset dementia: a case report and brief literature review.
作者信息
Ringman John M, Rao P Nagesh, Lu Po H, Cederbaum Stephen
机构信息
Alzheimer's Disease Research Center, Department of Neurology, University of California, Los Angeles, 10911 Weyburn Ave, Ste 200, Los Angeles, CA 90095-7226, USA.
出版信息
Arch Neurol. 2008 Mar;65(3):412-5. doi: 10.1001/archneur.65.3.412.
OBJECTIVE
To describe a case of young-onset Alzheimer disease (AD) due to mosaicism for trisomy 21.
DESIGN
Case report of a single patient.
SETTING
Tertiary referral dementia clinic.
PATIENT
A 55-year-old man with a mild degree of developmental delay but no previous diagnosis of Down syndrome and only minimal physical manifestations of Down syndrome presented with gradually progressive cognitive impairment consistent with probable AD.
RESULTS
Fluorescent in situ hybridization analysis of interphase chromosomes revealed trisomy 21 in 10% of peripheral lymphocytes.
CONCLUSIONS
As mosaicism for trisomy 21 can present with no or minimal manifestations of Down syndrome, it may be underdiagnosed as a cause of early-onset AD. Occult mosaicism for trisomy 21 may explain in part the previously described association between family history of Down syndrome and risk of AD. Screening for mosaicism with fluorescent in situ hybridization is indicated in selected patients with mild developmental delay and those with AD of young onset.
目的
描述一例因21号染色体三体嵌合导致的早发型阿尔茨海默病（AD）病例。
设计
单病例报告。
地点
三级转诊痴呆诊所。
患者
一名55岁男性，有轻度发育迟缓，但既往未诊断为唐氏综合征，仅有极轻微的唐氏综合征身体表现，出现与可能的AD相符的逐渐进展的认知障碍。
结果
间期染色体荧光原位杂交分析显示外周血淋巴细胞中10%存在21号染色体三体。
结论
由于21号染色体三体嵌合可能不伴有或仅有极轻微的唐氏综合征表现，它可能作为早发型AD的病因被漏诊。21号染色体三体的隐匿嵌合可能部分解释了先前描述的唐氏综合征家族史与AD风险之间的关联。对于有轻度发育迟缓的特定患者以及早发型AD患者，建议采用荧光原位杂交技术筛查嵌合情况。
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