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一名患有自闭症谱系障碍和抽动秽语综合征的青少年出现16号染色体短臂部分三体。

Partial trisomy 16p in an adolescent with autistic disorder and Tourette's syndrome.

作者信息

Hebebrand J, Martin M, Körner J, Roitzheim B, de Braganca K, Werner W, Remschmidt H

机构信息

Department of Child and Adolescent Psychiatry, Philipps-University, Marburg, Germany.

出版信息

Am J Med Genet. 1994 Sep 15;54(3):268-70. doi: 10.1002/ajmg.1320540316.

Abstract

A partial trisomy 16p was identified in a 14-year-old male adolescent with autistic disorder. He additionally showed complex motor and vocal phenomena, including some simple tics which had first appeared in childhood. Whereas these simple tics were of subclinical significance, an additional diagnosis of Tourette's syndrome (TS) appears justified. The case report illustrates the diagnostic difficulties in assessing psychiatric symptomatology associated with both disorders, especially complex motor and vocal phenomena. The cytogenetic finding is discussed critically in the light of other chromosome abnormalities reported in both TS and autistic disorder. Chromosome 16p should be considered as a candidate region especially for autistic disorder.

摘要

在一名患有自闭症谱系障碍的14岁男性青少年中发现了部分16号染色体短臂三体。他还表现出复杂的运动和发声现象,包括一些童年期首次出现的简单抽动。虽然这些简单抽动具有亚临床意义,但额外诊断为妥瑞氏综合征(TS)似乎是合理的。该病例报告说明了在评估与这两种疾病相关的精神症状,尤其是复杂的运动和发声现象时的诊断困难。根据TS和自闭症谱系障碍中报告的其他染色体异常情况,对细胞遗传学发现进行了批判性讨论。16号染色体短臂应被视为特别是自闭症谱系障碍的候选区域。

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