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Confirmation that the velo-cardio-facial syndrome is associated with haplo-insufficiency of genes at chromosome 22q11.证实腭心面综合征与22q11染色体上基因的单倍剂量不足有关。
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腭心面综合征与精神障碍：对精神科遗传学的启示

Velo-cardio-facial syndrome and psychotic disorders: implications for psychiatric genetics.

作者信息

Chow E W, Bassett A S, Weksberg R

机构信息

Department of Psychiatry, Queen Street Mental Health Centre, Toronto, Ontario, Canada.

出版信息

Am J Med Genet. 1994 Jun 15;54(2):107-12. doi: 10.1002/ajmg.1320540205.

DOI:10.1002/ajmg.1320540205
PMID:8074160
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC3142271/
Abstract

Psychiatric disorders have been reported in over 10% of patients with velo-cardio-facial syndrome (VCFS) in long-term follow-up. To further explore the behavioral and psychiatric findings associated with VCFS in adulthood, detailed clinical histories of two patients--one with VCFS who developed a psychotic illness, and one with schizophrenia who was found to have dysmorphological features associated with VCFS--are described in the current report. The observed overlap of physical and psychiatric symptoms in these two patients suggests that VCFS and psychotic disorders may share a pathogenetic mechanism. This could be consistent with a contiguous gene model for VCFS and psychosis, suggesting chromosome 22q11 as a possible candidate region for genetic studies of schizophrenia.

摘要

在长期随访中，超过10%的腭心面综合征（VCFS）患者被报告患有精神疾病。为了进一步探究成年期与VCFS相关的行为和精神方面的表现，本报告描述了两名患者的详细临床病史——一名患有VCFS且患上精神病的患者，以及一名被发现具有与VCFS相关的畸形特征的精神分裂症患者。这两名患者中观察到的身体和精神症状重叠表明，VCFS和精神疾病可能共享一种致病机制。这可能与VCFS和精神病的邻接基因模型一致，提示22q11染色体作为精神分裂症基因研究的一个可能候选区域。