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首页> 外文期刊>American journal of medical genetics, Part A >Schizophrenia in an adult with 6p25 deletion syndrome.
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Schizophrenia in an adult with 6p25 deletion syndrome.

机译：成年人患有6p25缺失综合征的精神分裂症。

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Chromosomal deletions at 6p25-p24 are rare findings in patients with developmental delay. There is limited information about the adult phenotype. We present a 36-year-old patient with schizophrenia, mild mental retardation, progressive hearing deficits, and characteristic facial features. Ocular (Axenfeld-Rieger anomaly) abnormalities were diagnosed in infancy; vision, however, has remained unimpaired. There were no other major congenital anomalies. Brain imaging showed only minor changes. There was no family history of intellectual deficits or psychosis. Karyotyping revealed a 6p25 deletion, and detailed fluorescence in situ hybridization (FISH) analyses using 23 probes confirmed a 6.7 Mb 6p25-pter deletion. The breakpoint is near a possible 6p25-p24 locus for schizophrenia. Psychotic illness may be part of the neurodevelopmental abnormalities and long-term outcome of patients with 6p terminal deletions. Other similarly affected patients likely remain to be diagnosed in adult populations of schizophrenia and/or mental retardation.
机译：在发育迟缓的患者中很少见到6p25-p24处的染色体缺失。关于成人表型的信息有限。我们介绍了一个患有精神分裂症，轻度智力低下，进行性听力缺陷和特征性面部特征的36岁患者。在婴儿期诊断为眼部异常（Axenfeld-Rieger异常）;但是，视力仍未受损。没有其他主要的先天性异常。脑部成像仅显示微小变化。没有智力缺陷或精神病的家族史。核型分析显示6p25缺失，使用23个探针进行的详细荧光原位杂交（FISH）分析证实了6.7 Mb 6p25-pter缺失。断点靠近精神分裂症可能的6p25-p24基因座。精神病可能是6p末端缺失患者神经发育异常和长期预后的一部分。在精神分裂症和/或智力低下的成人人群中，其他可能受到类似影响的患者可能仍有待诊断。

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